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id stringlengths 2 20	ch_id stringlengths 2 20	keywords listlengths 0 162	title stringlengths 0 130	authors stringlengths 0 245	abstract stringlengths 0 4.05k	content stringlengths 0 197k	references listlengths 0 142	created_date stringlengths 0 10	updated_date stringlengths 0 10	revised_date stringlengths 0 10	journal stringclasses 1 value	source_url stringclasses 1 value	publication_types listlengths 2 2
cpt2	cpt2	[ "CPT II Deficiency", "CPT II Deficiency", "Carnitine O-palmitoyltransferase 2, mitochondrial", "CPT2", "Carnitine Palmitoyltransferase II Deficiency" ]	Carnitine Palmitoyltransferase II Deficiency	Thomas Wieser	Summary Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former t...	## Diagnosis Carnitine palmitoyltransferase II (CPT II) deficiency Episodes of liver failure with hypoketotic hypoglycemia Cardiomyopathy Cardiac arrhythmias Seizures and coma after fasting or infection Facial abnormalities or structural malformations (e.g., cystic renal dysplasia, neuronal migration defects or...	[]	27/8/2004	16/3/2017	3/1/2019	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
cranio-md	cranio-md	[ "Mineralization regulator ANKH", "ANKH", "Autosomal Dominant Craniometaphyseal Dysplasia" ]	Autosomal Dominant Craniometaphyseal Dysplasia	Ernst Reichenberger, I-Ping Chen	Summary Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, fullness of the paranasal tissue, hypertelorism with an increase in bizygomatic width, and prominent mandible. Development of dentition may be de...	## Diagnosis Formal diagnostic criteria for autosomal dominant craniometaphyseal dysplasia (AD-CMD) have not been established. AD-CMD Obstruction of the nasal sinuses Characteristic facial features. Wide nasal bridge, fullness of the paranasal tissue, hypertelorism with an increase in bizygomatic width, and promi...	[]	27/8/2007	14/8/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
craniosynostosis	craniosynostosis	[ "FGFR Acrocephalosyndactyly", "FGFR Acrocephalosyndactyly", "FGFR2-Related Craniosynostosis", "FGFR1-Related Craniosynostosis", "FGFR3-Related Craniosynostosis", "Fibroblast growth factor receptor 1", "Fibroblast growth factor receptor 2", "Fibroblast growth factor receptor 3", "FGFR1", "FGFR2", ...		Tara Wenger, Danny Miller, Kelly Evans	Summary The purpose of this overview is to: Describe the Review the Provide an Summarize current Inform	## Clinical Characteristics of To date, more than 500 individuals with an Apert syndrome Beare-Stevenson cutis gyrata syndrome Bent bone dysplasia Crouzon syndrome Crouzon syndrome with acanthosis nigricans Jackson-Weiss syndrome Muenke syndrome Pfeiffer syndrome Isolated coronal synostosis Considerable ph...	[]	20/10/1998	16/4/2020	30/4/2020	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
creatine	creatine	[ "Cerebral Creatine Deficiency Disorders", "Cerebral Creatine Deficiency Disorders", "Guanidinoacetate Methyltransferase (GAMT) Deficiency", "Creatine Transporter (CRTR) Deficiency", "L-Arginine:Glycine Amidinotransferase (AGAT) Deficiency", "Glycine amidinotransferase, mitochondrial", "Guanidinoacetate ...	Creatine Deficiency Disorders	Saadet Mercimek-Andrews, Gajja S Salomons	Summary The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency...	Guanidinoacetate methyltransferase (GAMT) deficiency L-arginine:glycine amidinotransferase (AGAT) deficiency Creatine transporter (CRTR) deficiency • Guanidinoacetate methyltransferase (GAMT) deficiency • L-arginine:glycine amidinotransferase (AGAT) deficiency • Creatine transporter (CRTR) deficiency ## Diagnosis...	[]	15/1/2009	10/2/2022	7/8/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
csc-dys	csc-dys	[ "Decorin", "DCN", "Congenital Stromal Corneal Dystrophy" ]	Congenital Stromal Corneal Dystrophy	Eyvind Rødahl, Per M Knappskog, Cecilie Bredrup, Helge Boman	Summary Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance....	## Diagnosis Congenital stromal corneal dystrophy (CSCD) The surface of the cornea is normal or slightly irregular. Small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. The thickness of the cornea (as measured by ultrasonic pachymetry) is increased. Note: This...	[ "BT Acar, KT Bozkurt, E Duman, S Acar. Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy?. BMJ Case Rep 2016:2016", "C Bredrup, PM Knappskog, J Majewski, E Rødahl, H Boman. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin g...	25/11/2008	29/11/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
csnb	csnb	[ "X-Linked CSNB", "X-Linked CSNB", "Nyctalopin", "Voltage-dependent L-type calcium channel subunit alpha-1F", "CACNA1F", "NYX", "X-Linked Congenital Stationary Night Blindness" ]	X-Linked Congenital Stationary Night Blindness	Ian M MacDonald, Stephanie Hoang, Sari Tuupanen	Summary X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasional...	## Diagnosis Characteristic clinical findings: Reduced visual acuity Night blindness Myopia Nystagmus (not universal) and strabismus (50%-70%) Normal color vision Normal fundus examination Family history consistent with X-linked inheritance Characteristic findings on ERG examination: ERG is used to assess the...	[ "LE Allen, I Zito, K Bradshaw, RJ Patel, AC Bird, F Fitzke, JR Yates, D Trump, AJ Hardcastle, AT Moore. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.. Br J Ophthalmol 2003;87:1413-20", "NT Bech-Hansen, MJ Naylor, TA Maybaum, WG Pearce, B Koop, GA Fishman, ...	16/1/2008	3/7/2019		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
csnk2b-ndd	csnk2b-ndd	[ "Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)", "Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)", "Casein kinase II subunit beta", "CSNK2B", "CSNK2B-Related Neurodevelopmental Disorder" ]		Natalie Lippa, Maureen Mulhern, Michelle Ernst Florido, Chelsea Earley, Tristan T Sands	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Mild-to-profound developmental delay (DD), intellectual disability (ID), or learning disability Epilepsy ranging from mild pharmaco-responsive epilepsy to severe intractable epilepsy with recurrent status epilepticus. Seizure types include the following: ...	[]	5/9/2024			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ctcf-dis	ctcf-dis	[ "Autosomal Dominant Intellectual Disability 21", "CTCF-Related Neurodevelopmental Disorder", "Autosomal Dominant Intellectual Disability 21", "CTCF-Related Neurodevelopmental Disorder", "Transcriptional repressor CTCF", "CTCF", "CTCF-Related Disorder" ]		Hannah Gabriela Valverde de Morales, Hsiao-Lin Wang, Kathryn Garber, Victor Corces, Hong Li	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Mild-to-profound developmental delay (DD) or intellectual disability (ID) AND Any of the following features presenting in infancy or childhood: Hypotonia Feeding difficulties Slow growth Neurobehavioral/psychiatric manifestations, including autism spe...	[]	25/4/2024			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ctlm	ctlm	[ "Argininosuccinate Synthetase Deficiency", "Argininosuccinic Acid Synthetase Deficiency", "ASS Deficiency", "Classic Citrullinemia", "CTLN1", "ASS Deficiency", "Classic Citrullinemia", "CTLN1", "Argininosuccinic Acid Synthetase Deficiency", "Argininosuccinate Synthetase Deficiency", "Argininosuc...	Citrullinemia Type I	Shane C Quinonez, Kristen N Lee	Summary Citrullinemia type I (CTLN1) presents as a spectrum that includes a neonatal acute form (the "classic" form), a milder late-onset form (the "non-classic" form), a form in which women have onset of symptoms at pregnancy or post partum, and a form without symptoms or hyperammonemia. Distinction between the forms ...	## Diagnosis Citrullinemia type I (CTLN1) results from deficiency of the enzyme argininosuccinate synthase, the third step in the urea cycle, in which citrulline is condensed with aspartate to form arginosuccinic acid (see Urea Cycle Disorders Overview NBS for CTLN1 is primarily based on quantification of the analyte...	[]	7/7/2004	18/8/2022	22/4/2008	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ctnnb1-ndd	ctnnb1-ndd	[ "Catenin beta-1", "CTNNB1", "CTNNB1 Neurodevelopmental Disorder" ]		Stephanie KL Ho, Mandy HY Tsang, Mianne Lee, Shirley SW Cheng, Ho-ming Luk, Ivan FM Lo, Brian HY Chung	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Mild-to-profound developmental delay or intellectual disability Exudative vitreoretinopathy with a range of findings observed in familial exudative vitreoretinopathy (FEVR) that include: asymptomatic peripheral retina avascularity, neovascularization, and fi...	[ "RG Coussa, Y Zhao, MJ DeBenedictis, A Babiuch, J Sears, EI Traboulsi. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.. Ophthalmic Genet. 2020;41:63-8", "J de Ligt, MH Willemsen, BW van Bon, T Kleefstra, HG Yntema, T Kroes, AT...	19/5/2022			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ctns	ctns	[ "Non-Nephropathic (Ocular) Cystinosis", "Later-Onset (Juvenile) Cystinosis", "Nephropathic Cystinosis", "Cystinosin", "CTNS", "Cystinosis" ]	Cystinosis	William A Gahl	Summary Cystinosis comprises three allelic clinical phenotypes caused by pathogenic variants in The diagnosis of cystinosis is established in a proband with cystine crystals in the cornea identified on slit lamp examination, elevated cystine concentration in polymorphonuclear leukocytes, and/or demonstration of increas...	Nephropathic cystinosis Later-onset (juvenile) cystinosis Non-nephropathic (ocular) cystinosis For synonyms and outdated names see • Nephropathic cystinosis • Later-onset (juvenile) cystinosis • Non-nephropathic (ocular) cystinosis ## Diagnosis Typically, birth weight and initial growth are normal. Poor weigh...	[]	22/3/2001	14/8/2025	7/12/2017	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ctx	ctx	[ "Sterol 26-hydroxylase, mitochondrial", "CYP27A1", "Cerebrotendinous Xanthomatosis" ]	Cerebrotendinous Xanthomatosis	Antonio Federico, Gian Nicola Gallus	Summary Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dysto...	## Diagnosis A consensus paper on the diagnostic criteria and management of cerebrotendinous xanthomatosis (CTX) has been published [ CTX, a lipid storage disease, Neonatal cholestasis Infantile-onset diarrhea Childhood-onset cataract Adolescent- to young adult-onset tendon xanthomas ( Adult-onset progressive ...	[]	16/7/2003	17/3/2022	14/11/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
cutis-laxa	cutis-laxa	[ "ATP6V0A2-CDG", "Autosomal Recessive Cutis Laxa Type 2A (ARCL2A)", "Autosomal Recessive Cutis Laxa Type 2A (ARCL2A)", "ATP6V0A2-CDG", "Debré-Type Cutis Laxa", "Wrinkly Skin Syndrome", "V-type proton ATPase 116 kDa subunit a 2", "ATP6V0A2", "ATP6V0A2-Related Cutis Laxa" ]		Lionel Van Maldergem, William Dobyns, Uwe Kornak	Summary The diagnosis of	Debré-type cutis laxa Wrinkly skin syndrome • Debré-type cutis laxa • Wrinkly skin syndrome ## Diagnosis Furrowing of the skin of the whole body; particularly obvious in neck, axillae, and groin Skin that when extended does not display marked hyperelasticity (as is observed in the Ehlers-Danlos syndromes) but r...	[]	19/3/2009	28/1/2021	16/3/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
cvt	cvt	[ "Catecholamine-Induced Polymorphic Ventricular Tachycardia", "CPVT", "CPVT", "Catecholamine-Induced Polymorphic Ventricular Tachycardia", "Calmodulin", "Calmodulin-3", "Calsequestrin-2", "Inward rectifier potassium channel 2", "Ryanodine receptor 2", "Trans-2,3-enoyl-CoA reductase-like", "Triadi...	Catecholaminergic Polymorphic Ventricular Tachycardia	Carlo Napolitano, Andrea Mazzanti, Raffaella Bloise, Silvia G Priori	Summary Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic syncope occurring during exercise or acute emotion. The underlying cause of these episodes is the onset of fast ventricular tachycardia (bidirectional or polymorphic). Spontaneous recovery may occur when these arrhythmias ...	## Diagnosis Catecholaminergic polymorphic ventricular tachycardia (CPVT) Syncope occurring during physical activity or acute emotion; mean onset is age seven to 12 years. Less frequently, first manifestations may occur later in life; individuals with a first event up to age 40 years have been reported. History of e...	[ "Y Aizawa, S Komura, S Okada, M Chinushi, Y Aizawa, H Morita, T Ohe. Distinct U wave changes in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT).. Int Heart J 2006;47:381-9", "SM Al-Khatib, WG Stevenson, MJ Ackerman, WJ Bryant, DJ Callans, AB Curtis, BJ Deal, T Dickfeld, ME Field, GC Fon...	14/10/2004	23/6/2022	7/2/2013	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
cyclic-n	cyclic-n	[ "Cyclic Neutropenia", "Congenital Neutropenia", "Neutrophil elastase", "ELANE", "ELANE-Related Neutropenia" ]		David C Dale, Vahagn Makaryan	Summary In congenital neutropenia, omphalitis immediately after birth may be the first sign; in untreated children diarrhea, pneumonia, and deep abscesses in the liver, lungs, and subcutaneous tissues are common in the first year of life. After 15 years with granulocyte colony-stimulating factor treatment, the risk of ...	Congenital neutropenia Cyclic neutropenia For synonyms and outdated names see For other genetic causes of these phenotypes see • Congenital neutropenia • Cyclic neutropenia ## Diagnosis Mouth ulcers, pharyngitis, and fever recurring regularly at three-week intervals Inflammation and infection of the sinus...	[ "PJ Ancliff, RE Gale, R Liesner, I Hann, DC Linch. Long-term follow-up of granulocyte colony-stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy.. Br J Haematol. 2003a;120:685-90", "PJ Ancliff, RE Gale, DC Linch. Neutrophil elastase mu...	17/6/2002	23/8/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
cyld-cs	cyld-cs	[ "Brooke-Spiegler Syndrome (BSS)", "Familial Cylindromatosis (FC)", "Multiple Familial Trichoepithelioma (MFT)", "Multiple Familial Trichoepithelioma (MFT)", "Familial Cylindromatosis (FC)", "Brooke-Spiegler Syndrome (BSS)", "Ubiquitin carboxyl-terminal hydrolase CYLD", "CYLD", "CYLD Cutaneous Syndro...		Anna Dubois, Neil Rajan	Summary The diagnosis of Germline pathogenic variants in	## Diagnosis Formal diagnostic criteria for The presence of one or more cylindromas or spiradenomas on the face and scalp, perinasal trichoepitheliomas, or a combination of these tumor types in an individual Cylindromas, spiradenomas, and trichoepitheliomas can be diagnosed clinically but may mimic other skin tumors...	[ "M Arefi, V Wilson, S Muthiah, S Zwolinski, D Bajwa, P Brennan, K Blasdale, D Bourn, J Burn, M Santibanez-Koref, N Rajan. Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission.. J Am Acad Dermatol. 2019;81:1300-7", "AP Arruda, AC Cardoso-Dos-S...	16/4/2020			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
danon	danon	[ "Lysosome-associated membrane glycoprotein 2", "LAMP2", "Danon Disease" ]	Danon Disease	Matthew RG Taylor, Eric D Adler	Summary Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. Males usually present with childhood onset concentric hypertrophic cardiomyopathy that is progressive a...	## Diagnosis For the purposes of this Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Formal clinical diagnostic criteria for Danon disease have not been established. Danon disease Cardiomyopathy that is predom...	[]	5/3/2020		23/5/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dbh	dbh	[ "Dopamine beta-hydroxylase", "DBH", "Dopamine Beta-Hydroxylase Deficiency" ]	Dopamine Beta-Hydroxylase Deficiency	Italo Biaggioni	Summary Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function resulting in profound deficits in autonomic regulation of cardiovascular function (orthostatic hypotension) and other autonomic dysfunction (ptosis, nasal stuffiness, sleep difficulties, and impaired ejacul...	## Diagnosis No consensus clinical diagnostic criteria have been published for dopamine beta-hydroxylase (DBH) deficiency. A clinical assessment including orthostatic vital signs and an ophthalmic exam should be the initial step; if indicated, this should be followed by autonomic function testing and plasma catecholam...	[]	4/9/2003	26/9/2024		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dbmd	dbmd	[ "Duchenne Muscular Dystrophy (DMD)", "Becker Muscular Dystrophy (BMD)", "DMD-Associated Dilated Cardiomyopathy", "Dystrophin", "DMD", "Dystrophinopathies" ]	Dystrophinopathies	Basil T Darras, David K Urion, Partha S Ghosh	Summary The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently a...	Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) For synonyms and outdated names see For other genetic causes of these phenotypes see • Duchenne muscular dystrophy (DMD) • Becker muscular dystrophy (BMD) ## Diagnosis The dystrophinopathies cover a spectrum of X-linked muscle disease that ranges ...	[ "A Aartsma-Rus, JC Van Deutekom, IF Fokkema, GJ Van Ommen, JT Den Dunnen. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.. Muscle Nerve 2006;34:135-44", "A Aartsma-Rus, I Fokkema, J Verschuuren, I Ginjaar...	5/9/2000	26/4/2018	20/1/2022	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dcm-lmna	dcm-lmna	[ "Prelamin-A/C", "LMNA", "LMNA-Related Dilated Cardiomyopathy" ]		Ray E Hershberger, Elizabeth Jordan	Summary The diagnosis of	## Diagnosis The diagnosis of Note: Identification of a heterozygous Because the phenotype of Note: Single-gene testing (sequence analysis of For an introduction to multigene panels click For an introduction to comprehensive genomic testing click Molecular Genetic Testing Used in See See Sequence analysis d...	[]	12/6/2008	17/3/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dcm-ov	dcm-ov	[ "DMD-Related Dilated Cardiomyopathy", "LDB3-Related Dilated Cardiomyopathy", "LMNA-Related Dilated Cardiomyopathy", "MYBPC3-Related Dilated Cardiomyopathy", "MYH7-Related Dilated Cardiomyopathy", "PLN-Related Dilated Cardiomyopathy", "SCN5A-Related Dilated Cardiomyopathy", "SGCD-Related Dilated Cardio...	Dilated Cardiomyopathy Overview	Ray E Hershberger, Elizabeth Jordan	Summary The purpose of this overview is to: Identify the Provide the Provide a basic view of	## Dilated Cardiomyopathy (DCM): Definition The diagnosis of DCM is established when both of the following are present: Note: DCM usually initially manifests in adults in the fourth to sixth decade, although it may present at any age (prenatally; in infancy, early or late childhood, or adolescence; or in the elderl...	[]	27/7/2007	29/7/2021	12/12/2024	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dcx	dcx	[ "DCX-Related Classic Lissencephaly", "DCX-Related Subcortical Band Heterotopia (SBH)", "Neuronal migration protein doublecortin", "DCX", "DCX-Related Disorders" ]		Tobias Geis, Gökhan Uyanik, Ludwig Aigner, Sebastien Couillard-Despres, Jürgen Winkler, Ute Hehr	Summary The diagnosis of a	Classic lissencephaly Subcortical band heterotopia (SBH) For synonyms and outdated names see For other genetic causes of these phenotypes, see • Classic lissencephaly • Subcortical band heterotopia (SBH) ## Diagnosis For the purposes of this Classic thick lissencephaly, primarily in males Subcortical band hete...	[]	19/10/2007	5/6/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ddon	ddon	[ "DDON", "Mohr-Tranebjaerg Syndrome", "Mohr-Tranebjaerg Syndrome", "Mitochondrial import inner membrane translocase subunit Tim8 A", "TIMM8A", "Deafness-Dystonia-Optic Neuronopathy Syndrome" ]	Deafness-Dystonia-Optic Neuronopathy Syndrome	Lisbeth Tranebjærg	Summary Males with deafness-dystonia-optic neuronopathy (DDON) syndrome have prelingual or postlingual sensorineural hearing impairment in early childhood, slowly progressive dystonia or ataxia in the teens, slowly progressive decreased visual acuity from optic atrophy beginning at approximately age 20 years, and demen...	## Diagnosis Formal diagnostic criteria for deafness-dystonia-optic neuronopathy (DDON) syndrome have not been established. Deafness-dystonia-optic neuronopathy (DDON) syndrome is suspected in males with the following: Progressive sensorineural hearing impairment with prelingual or postlingual onset: Absent stapedi...	[ "T Arai, M Zhao, H Kanegane, MC van Zelm, T Futatani, M Yamada, T Ariga, HD Ochs, T Miyawaki, T Oh-ishi. Genetic analysis of contiguous nX-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.. J Hum Genet 2011;56:577-82", "F Bahmad, SN Merchant, JB Nadol, L Tranebjaerg. Otopathology in Mohr-Tranebj...	6/2/2003	21/11/2019	24/3/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ddx3x-ndd	ddx3x-ndd	[ "ATP-dependent RNA helicase DDX3X", "DDX3X", "DDX3X-Related Neurodevelopmental Disorder" ]		Bethany Johnson-Kerner, Lot Snijders Blok, Lindsey Suit, Julian Thomas, Tjitske Kleefstra, Elliott H Sherr	Summary The diagnosis of If the proband is female and represents a simplex case and if the Once the	## Diagnosis Formal diagnostic criteria for Developmental delay (DD) or mild to severe intellectual disability (ID) Hypotonia (primarily truncal) Behavior problems: autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), inappropriate behavior, self-injurious behavior, poor impulse contro...	[ "L Basel-Vanagaite, R Yilmaz, S Tang, MS Reuter, N Rahner, DK Grange, M Mortenson, P Koty, H Feenstra, KD Farwell Gonzalez, H Sticht, N Boddaert, J Désir, K Anyane-Yeboa, C Zweier, A Reis, C Kubisch, T Jewett, W Zeng, G Borck. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome wit...	27/8/2020			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ddx41-mds	ddx41-mds	[ "DDX41-Related Myeloid Neoplasia", "Myeloid Neoplasms with Germline DDX41 Mutation", "DDX41-Related Myeloid Neoplasia", "Myeloid Neoplasms with Germline DDX41 Mutation", "Probable ATP-dependent RNA helicase DDX41", "DDX41", "DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia" ...		Jane E Churpek, Kelcy Smith-Simmer	Summary The diagnosis of	## Diagnosis Less common myeloid neoplasms include chronic myelomonocytic leukemia, chronic myeloid leukemia, and myeloproliferative neoplasms. Unexplained blood count abnormalities including mild single- or multiple-lineage cytopenias and/or macrocytosis (in 40%-66%) In individuals with MDS/AML: Bone marrow hy...	[ "I Abou Dalle, H Kantarjian, SA Bannon, R Kanagal-Shamanna, M Routbort, KP Patel, S Hu, K Bhalla, G Garcia-Manero, CD DiNardo. Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation.. Am J Hematol. 2020;95:227-9", "DA Arber, A Orazi, R Hasserjian, J Thiele, MJ Borowit...	28/10/2021			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
deafness-overview	deafness-overview	[ "Nonsyndromic Hearing Loss and Deafness", "Actin, cytoplasmic 2", "Alpha-tectorin", "Barttin", "Cadherin-23", "Claudin-14", "Cochlin", "Coiled-coil domain-containing protein 50", "Collagen alpha-2(XI) chain", "Cytochrome c oxidase subunit 1", "Dentin sialophosphoprotein", "Endosomal transmembr...	Genetic Hearing Loss Overview	A Eliot Shearer, Michael S Hildebrand, Amanda M Odell, Richard JH Smith	Summary The purpose of this Describe the Review the Review the Explain the Review the Inform the	## Audiometric and Clinical Aspects of Hearing Loss Hearing loss can be characterized by type, onset, severity, and frequency. Conductive hearing loss, due to abnormalities of the external ear and/or the ossicles of the middle ear Sensorineural hearing loss due to malfunction of the inner ear structures (i.e., co...	[]	14/2/1999	6/4/2023	3/4/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
del16p11_2	del16p11_2	[ "Not applicable", "Not applicable", "16p11.2 Recurrent Deletion" ]	16p11.2 Recurrent Deletion	Cora M Taylor, Rebecca Smith, Christopher Lehman, Marissa W Mitchel, Kaitlyn Singer, W Curtis Weaver, Wendy Chung	Summary The 16p11.2 recurrent deletion phenotype is characterized by motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. While most, if not all, individuals with the 16p11.2 recurrent deletion experience some degree of developmental delay, the severi...	## Diagnosis The 16p11.2 recurrent deletion Motor speech disorder, especially childhood apraxia of speech Language disorder Learning difficulties / intellectual disability Social impairments with or without a diagnosis of autism spectrum disorder (ASD) Macrocephaly Chiari I malformation / cerebellar tonsillar ec...	[]	22/9/2009	28/10/2021	27/10/2011	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
del1p36	del1p36	[ "Monosomy 1p36 Syndrome", "Monosomy 1p36 Syndrome", "Not applicable", "Not applicable", "1p36 Deletion Syndrome" ]	1p36 Deletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Agatino Battaglia	Summary 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posterio...	## Diagnosis The diagnosis of 1p36 deletion syndrome is suggested by the characteristic facial appearance, hypotonia, psychomotor retardation, and poor or absent speech and is confirmed by detection of a deletion of the most distal band of the short arm of chromosome 1 (1p36). An apparently "pure" terminal deletion ...	[ "J Anderson, H Kempski, L Hill, D Rampling, T Gordon, A Michalski. Neuroblastoma in monozygotic twins--a case of probable twin-to-twin metastasis.. Br J Cancer 2001;85:493-6", "N Bahi-Buisson, E Gutierrez-Delicado, C Soufflet, M Rio, V Cormier Daire, D Lacombe, D Heron, A Verloes, SM Zuberi, L Burglen, A Afenjar,...	1/2/2008	6/6/2013		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
del2q37_2	del2q37_2	[ "Albright Hereditary Osteodystrophy-Like Syndrome", "Brachydactyly-Mental Retardation Syndrome", "Albright Hereditary Osteodystrophy-Like Syndrome", "Brachydactyly-Mental Retardation Syndrome", "Histone deacetylase 4", "Not applicable", "HDAC4", "Not applicable", "2q37 Microdeletion Syndrome" ]	2q37 Microdeletion Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Emily S Doherty, Felicitas L Lacbawan	Summary 2q37 microdeletion syndrome is characterized by mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5 (often digit 4 alone) (>50%), short stature, obesity, hypotonia, characteristic facial appearance, autism or autism spectrum disorder (30%), joint hypermobility/dislocatio...	## Diagnosis Developmental delay/intellectual disability Brachymetaphalangy of digits 3-5 (often digit 4 alone), referred to as type E brachydactyly Short stature Obesity Hypotonia Characteristic facial appearance: Round face (variable) Frontal bossing Arched eyebrows Deep-set eyes Upslanted palpebral fissur...	[ "MA Aldred. Genetics of pseudohypoparathyroidism types Ia and Ic.. J Pediatr Endocrinol Metab 2006;19:635-40", "MA Aldred, RO Sanford, NS Thomas, MA Barrow, LC Wilson, LA Brueton, MC Bonaglia, RC Hennekam, C Eng, NR Dennis, RC Trembath. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum...	3/5/2007	9/8/2012	31/1/2013	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dent	dent	[ "H(+)/Cl(-) exchange transporter 5", "Inositol polyphosphate 5-phosphatase OCRL", "CLCN5", "OCRL", "Dent Disease" ]	Dent Disease	John C Lieske, Dawn S Milliner, Lada Beara-Lasic, Peter Harris, Andrea Cogal, Elizabeth Abrash	Summary Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-link...	## Diagnosis Dent disease LMW proteinuria (the pathognomonic finding of Dent disease) at least five times (and often 10x) above the upper limit of normal. Commonly screened LMW proteins are retinol binding protein and α1 microglobulin. Note: β2 microglobulin is also often measured to screen for LMW proteinuria. To t...	[]	9/8/2012	14/12/2017		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
depdc5-epilepsy	depdc5-epilepsy	[ "DEPDC5-Related Familial Focal Epilepsy with Variable Foci (FFEVF)", "DEPDC5-Related Autosomal Dominant Sleep-Related Hypermotor Epilepsy (ADSHE) (Autosomal Dominant Nocturnal Frontal Lobe Epilepsy [ADNFLE])", "DEPDC5-Related Familial Mesial Temporal Lobe Epilepsy (FMTLE)", "DEPDC5-Related Autosomal Dominant ...		Stéphanie Baulac, Sara Baldassari	Summary The diagnosis of	Familial focal epilepsy with variable foci (FFEVF) Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) (previously termed autosomal dominant nocturnal frontal lobe epilepsy [ADNFLE]) Familial mesial temporal lobe epilepsy (FMTLE) Autosomal dominant epilepsy with auditory features (ADEAF) Infantile spasms ...	[ "C Arenas-Cabrera, P Baena-Palomino, J Sánchez-García, M Oliver-Romero, Y Chocrón-González, M Caballero-Martínez. Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.. J Cent Nerv Syst Dis. 2022;14", "A Bacq, D Roussel, T Bonduelle, S Zagaglia, M ...	29/9/2016	9/3/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
df-lamm	df-lamm	[ "Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia", "LAMM Syndrome", "Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia", "LAMM Syndrome", "Fibroblast growth factor 3", "FGF3", "Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia" ]	Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia	Jessica Ordonez, Mustafa Tekin	Summary Congenital deafness with The diagnosis of LAMM syndrome is established in a proband by identification of biallelic pathogenic variants in LAMM syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an as...	## Diagnosis The diagnosis of congenital deafness with Profound congenital sensorineural deafness Severe inner ear anomalies diagnosed by CT scan or MRI of the inner ear. The most common inner ear anomaly is complete labyrinthine aplasia with no recognizable structure in the inner ear (also referred to as Michel apl...	[]	20/9/2012	4/4/2019	14/8/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dfn-myop	dfn-myop	[ "SLIT and NTRK-like protein 6", "SLITRK6", "Deafness and Myopia Syndrome" ]	Deafness and Myopia Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Jessica L Ordonez, Mustafa Tekin	Summary Deafness and myopia (DFNMYP) syndrome is characterized by bilateral, congenital or prelingual deafness (sensorineural hearing loss or auditory neuropathy spectrum disorder) and high myopia (>-6 diopters). In individuals with a molecularly confirmed diagnosis reported to date, hearing loss was progressive and s...	## Diagnosis Deafness and myopia (DFNMYP) syndrome Moderate-to-profound, bilateral, congenital or prelingual sensorineural hearing loss or auditory neuropathy spectrum disorder (sensorineural hearing loss originates from problems in the inner ear or the auditory nerve). Auditory neuropathy spectrum disorder is charac...	[]	15/1/2015	14/9/2017		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dfna2	dfna2	[ "Potassium voltage-gated channel subfamily KQT member 4", "KCNQ4", "DFNA2 Nonsyndromic Hearing Loss" ]	DFNA2 Nonsyndromic Hearing Loss	Richard JH Smith, Michael Hildebrand	Summary DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies. At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies; in older persons, the hearing loss...	## Diagnosis DFNA2 nonsyndromic hearing loss Symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all frequencies: At younger ages, hearing loss tends to be mild in the low frequencies and moderate in the high frequencies. In older persons, the hearing loss is moder...	[ "J Akita, S Abe, H Shinkawa, WJ Kimberling, S Usami. Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.. J Hum Genet 2001;46:355-61", "PJ Coucke, P Van Hauwe, PM Kelley, H Kunst, I Schatteman, D Van Velzen, J Meyers, RJ Ensink, M V...	4/4/2008	10/5/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dfna3	dfna3	[ "GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness", "GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness", "Gap junction beta-2 protein", "Gap junction beta-6 protein", "GJB2", "GJB6", "Nonsyndromic Hearing Loss and Deafness, DFNA3" ]	Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Richard JH Smith, Paul T Ranum	Summary Nonsyndromic hearing loss and deafness, DFNA3 is characterized by pre- or postlingual mild-to-profound progressive high-frequency sensorineural hearing impairment. Affected individuals have no other associated medical findings. Diagnosis of DFNA3 depends on molecular genetic testing to identify a heterozygous ...	## Diagnosis No formal diagnostic criteria have been published for DFNA3-related hearing loss. Nonsyndromic hearing loss and deafness, DFNA3 Pre- or postlingual mild-to-profound progressive sensorineural hearing impairment [ Note: (1) Hearing is measured in decibels (dB). The threshold or 0 dB mark for each frequen...	[]	28/9/1998	22/12/2016	15/7/2004	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dfnb1	dfnb1	[ "DFNB1", "Gap junction beta-2 protein", "GJB2", "GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss" ]		Richard JH Smith, Hela Azaiez, Kevin Booth	Summary The diagnosis of Because children with severe-to-profound hearing loss who are candidates for cochlear implantation can attain levels of social functioning and education indistinguishable from those of normal-hearing peers, cochlear implantation should be performed as soon as possible. Children with mild-to-mod...	## Diagnosis The diagnosis of Universal NBHS using physiologic screening (either otoacoustic emissions [OAE], which measure the response of cochlear outer hair cells to auditory stimuli, or automated auditory brain stem response [ABR], which measures the physiologic response of cochlear inner hair cells, auditory ner...	[]	28/9/1998	20/7/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dfnb9	dfnb9	[ "DFNB9", "Otoferlin-Related Hearing Loss", "DFNB9", "Otoferlin-Related Hearing Loss", "Typical OTOF-Related Hearing Loss", "Atypical (Temperature Sensitive or Progressive) OTOF-Related Hearing Loss", "Otoferlin", "OTOF", "OTOF-Related Hearing Loss" ]		Hela Azaiez, Ryan K Thorpe, Amanda M Odell, Richard JH Smith	Summary The two phenotypes comprising The diagnosis of	For synonyms and outdated names see ## Diagnosis No consensus clinical diagnostic criteria for Universal NBHS using physiologic screening is required by law or rule in all 50 states in the US and is performed on >98% of children in the US typically within days after birth (see Temperature-sensitive Mild-to-moderat...	[]	29/2/2008	13/3/2025	14/6/2011	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dfnx1	dfnx1	[ "DFN2 Nonsyndromic Hearing Loss and Deafness", "Ribose-phosphate pyrophosphokinase 1", "PRPS1", "DFNX1 Nonsyndromic Hearing Loss and Deafness" ]	DFNX1 Nonsyndromic Hearing Loss and Deafness – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Xue Z Liu, Huijun Yuan, Rahul Mittal, Denise Yan	Summary DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of Diagnosis relies on the presence of characteristic hearing loss in males and detection of a hemizygous DFNX1 is inherited in an X-linked manner. The father of an affected male will not have the disorder nor will he be a carrier of the path...	## Diagnosis DFNX1 nonsyndromic hearing loss and deafness, part of the spectrum of Sensorineural hearing loss is: Bilateral moderate to profound; Prelingual or postlingual in onset; Progressive or non-progressive. Audiograms are usually flat across all frequencies. However, some individuals have severe hearing ...	[ "B Almoguera, S He, M Corton, P Fernandez-San Jose, F Blanco-Kelly, MI López-Molina, B García-Sandoval, J Del Val, Y Guo, L Tian, X Liu, L Guan, RJ Torres, JG Puig, H Hakonarson, X Xu, B Keating, C Ayuso. Expanding the phenotype of. Orphanet J Rare Dis. 2014;9:190", "AP de Brouwer, H van Bokhoven, SB Nabuurs, WF ...	4/8/2011	19/7/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dguok-mtddepl	dguok-mtddepl	[ "DGUOK Deficiency", "DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form", "DGUOK Deficiency", "DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form", "Deoxyguanosine kinase, mitochondrial", "DGUOK", "Deoxyguanosine Kinase Deficiency" ]	Deoxyguanosine Kinase Deficiency	Ayman W El-Hattab, Fernando Scaglia	Summary The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated tr...	## Diagnosis Deoxyguanosine kinase (DGUOK) deficiency ( Liver disease. Jaundice, cholestasis, and hepatomegaly, progressing to liver failure Neurologic manifestations. Hypotonia, nystagmus, and developmental delay Lactic acidosis and hypoglycemia Elevated transaminases alanine aminotransferase and aspartate amin...	[]	18/6/2009	9/2/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
diamond-b	diamond-b	[ "Diamond-Blackfan Anemia (DBA)", "Diamond-Blackfan Syndrome (DBS)", "Diamond-Blackfan Anemia (DBA)", "Diamond-Blackfan Syndrome (DBS)", "Erythroid transcription factor", "HEAT repeat-containing protein 3", "Large ribosomal subunit protein eL15", "Large ribosomal subunit protein eL18", "Large ribosom...	DBA Syndrome	Colin Sieff	Summary DBA syndrome is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50% of affected individuals, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals dur...	## Diagnosis DBA syndrome Pallor, weakness, poor weight gain Growth deficiency (observed in 30%) Congenital malformations (observed in ~30%-50%); in particular craniofacial, upper-limb (thumb), heart, and genitourinary malformations Macrocytic anemia with no other significant cytopenias Increased erythrocyte ...	[]	25/6/2009	31/7/2025	23/3/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
diastrophic-d	diastrophic-d	[ "Diastrophic Dwarfism, SLC26A2-Related Diastrophic Dysplasia", "Diastrophic Dwarfism", "SLC26A2-Related Diastrophic Dysplasia", "Sulfate transporter", "SLC26A2", "Diastrophic Dysplasia" ]	Diastrophic Dysplasia	Sheila Unger, Andrea Superti-Furga	Summary Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation ...	## Diagnosis No consensus clinical diagnostic criteria for diastrophic dysplasia (DTD) have been published. However, cystic ear swelling, if present, is pathognomonic. DTD Limb shortening Normal-sized head Slight trunk shortening Hitchhiker thumbs ( Symphalangism with missing interphalangeal creases Small che...	[]	15/11/2004	23/12/2021	16/3/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dkc	dkc	[ "Zinsser-Cole-Engman Syndrome", "Zinsser-Cole-Engman Syndrome", "Revesz Syndrome", "Classic Dyskeratosis Congenita", "Hoyeraal Hreidarsson Syndrome", "Coats Plus Syndrome", "Adrenocortical dysplasia protein homolog", "CST complex subunit CTC1", "CST complex subunit STN1", "H/ACA ribonucleoprotein ...	Dyskeratosis Congenita and Related Telomere Biology Disorders	Sharon A Savage, Marena R Niewisch	Summary Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with ve...	Classic dyskeratosis congenita Hoyeraal Hreidarsson syndrome Revesz syndrome Coats plus syndrome • Classic dyskeratosis congenita • Hoyeraal Hreidarsson syndrome • Revesz syndrome • Coats plus syndrome ## Diagnosis Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired te...	[ "BP Alter, N Giri, SA Savage, PS Rosenberg. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.. Haematologica. 2018;103:30-9", "BP Alter, PS Rosenberg, N Giri, GM Baerlocher, PM Lansdorp, SA Savage. Telomere length is associated with disease sev...	12/11/2009	31/3/2022	19/1/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dld-def	dld-def	[ "DLD Deficiency", "E3 Deficiency", "DLD Deficiency", "E3 Deficiency", "Dihydrolipoyl dehydrogenase, mitochondrial", "DLD", "Dihydrolipoamide Dehydrogenase Deficiency" ]	Dihydrolipoamide Dehydrogenase Deficiency	Shane C Quinonez, Jess G Thoene	Summary The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset liver involvement and, rarely, a myopathic presentation. Early-onset DLD deficiency typically manifests in infancy as hypotonia with lactic acidosi...	## Diagnosis Dihydrolipoamide dehydrogenase (DLD) functions as the E3 subunit of three mitochondrial enzyme complexes: branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex, α-ketoglutarate dehydrogenase (αKGDH) complex, and pyruvate dehydrogenase (PDH) complex [ The phenotypic spectrum of DLD deficiency includ...	[ "N Ajit Bolar, AV Vanlander, C Wilbrecht, N Van der Aa, J Smet, B De Paepe, G Vandeweyer, F Kooy, F Eyskens, E De Latter, G Delanghe, P Govaert, JG Leroy, B Loeys, R Lill, L Van Laer, R Van Coster. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.. Hum Mol Genet. 201...	17/7/2014	9/7/2020	30/9/2021	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dlg4-synap	dlg4-synap	[ "Disks large homolog 4", "DLG4", "DLG4-Related Synaptopathy" ]		Zeynep Tümer, Thomas J Dye, Carlos Prada, Alexandre M White-Brown, Alex MacKenzie, Amanda M Levy	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Mild-to-severe developmental delay (DD) or intellectual disability (ID) AND Any of the following features presenting in infancy or childhood: Generalized hypotonia Developmental regression Movement disorder, including stereotypies, ataxia, dystonia, an...	[]	22/6/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dmn	dmn	[ "ATP-binding cassette sub-family C member 8", "ATP-sensitive inward rectifier potassium channel 11", "DNA-binding protein RFX6", "Eukaryotic translation initiation factor 2-alpha kinase 3", "Hepatocyte nuclear factor 1-beta", "Hexokinase-4", "Homeobox protein Nkx-2.2", "Insulin", "Motor neuron and p...	Permanent Neonatal Diabetes Mellitus	Diva D De León, Sara E Pinney	Summary Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to age 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis incl...	## Diagnosis Permanent neonatal diabetes mellitus (PNDM) Persistent hyperglycemia (plasma glucose concentration >250mg/dL) in infants younger than age six months that lasts for longer than seven to ten days [ Features typical of diabetes mellitus (e.g., glucosuria, ketonuria, hyperketonemia) Low or undetectable p...	[]	8/2/2008	14/11/2024	4/3/2008	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dmtn	dmtn	[ "6q24-TNDM", "6q24-TNDM", "Not applicable", "Zinc finger protein 57 homolog", "Zinc finger protein PLAGL1", "HYMAI", "PLAGL1", "ZFP57", "Diabetes Mellitus, 6q24-Related Transient Neonatal" ]	Diabetes Mellitus, 6q24-Related Transient Neonatal	Isabel Karen Temple, Deborah JG Mackay	Summary 6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth restriction, hyperglycemia that begins in the neonatal period in a term infant and ...	## Diagnosis Diagnosis of 6q24-related transient neonatal diabetes mellitus (6q24-TNDM) Severe intrauterine growth restriction Diabetes mellitus that commences in the first six weeks of life in a term infant and resolves by age 18 months. Presentation includes the following: Hyperglycemia Dehydration Plasma insul...	[ "T Arima, T Kamikihara, T Hayashida, K Kato, T Inoue, Y Shirayoshi, M Oshimura, H Soejima, T Mukai, N Wake. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.. Nucleic Acids Res 2005;33:2650-60", "EI Arthur, J Zlotogora, I Lerer, J Dagan...	10/10/2005	13/9/2018	23/12/2010	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dnajc6-pd	dnajc6-pd	[ "PARK-DNAJC6", "PARK-DNAJC6", "DNAJC6 Juvenile Parkinson Disease", "DNAJC6 Type of Early-Onset Parkinson Disease", "Auxilin", "DNAJC6", "DNAJC6 Parkinson Disease" ]		Manju A Kurian, Lucia Abela	Summary The majority of individuals have juvenile onset and develop symptoms before age 21 years. Developmental delay, intellectual disability, seizures, other movement disorders (e.g., dystonia, spasticity, myoclonus), and neuropsychiatric features occur in the majority of individuals with juvenile onset and often pre...	For synonyms and outdated names, see For other genetic causes of these phenotypes, see ## Diagnosis Onset of parkinsonism (bradykinesia, resting tremor, rigidity, postural instability) usually at the end of the first or beginning of the second decade Rapid disease progression and neurologic regression after onset o...	[]	13/5/2021			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dnmt1-ddsn	dnmt1-ddsn	[ "Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E)", "Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN)", "DNA (cytosine-5)-methyltransferase 1", "DNMT1", "DNMT1-Related Disorder" ]		Christopher J Klein	Summary The diagnosis of Each child of an individual with	Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) For synonyms and outdated names see For other genetic causes of these phenotypes see • Hereditary sensory and autonomic neuropathy type 1E (HSAN1E) • Autosomal dominant cerebellar a...	[ "J Baets, X Duan, Y Wu, G Smith, WW Seeley, I Mademan, NM McGrath, NC Beadell, J Khoury, MV Botuyan, G Mer, GA Worrell, K Hojo, J DeLeon, M Laura, YT Liu, J Senderek, J Weis, P Van den Bergh, SL Merrill, MM Reilly, H Houlden, M Grossman, SS Scherer, P De Jonghe, PJ Dyck, CJ Klein. Defects of mutant DNMT1 are linked...	16/2/2012	31/1/2019	17/5/2012	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
donnai	donnai	[ "DBS/FOAR Syndrome", "Faciooculoacousticorenal Syndrome", "FOAR Syndrome", "FOAR Syndrome", "DBS/FOAR Syndrome", "Low-density lipoprotein receptor-related protein 2", "LRP2", "Donnai-Barrow Syndrome" ]	Donnai-Barrow Syndrome	Mauro Longoni, Sibel Kantarci, Dian Donnai, Barbara R Pober	Summary Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose. Ocular complications inclu...	## Diagnosis Donnai-Barrow syndrome (DBS) Large anterior fontanelle in infants and young children Wide metopic suture in infants and young children Widow's peak Widely spaced eyes, typically marked Enlarged globes leading to the appearance of prominent eyes Downslanted palpebral fissures Posteriorly rotated e...	[]	28/8/2008	21/11/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
drd	drd	[ "Autosomal Dominant Dopa-Responsive Dystonia", "Autosomal Dominant Segawa Syndrome", "DYT5a", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation", "Hereditary Progressive Dystonia with Marked Diurnal Fluctuation", "Autosomal Dominant Segawa Syndrome", "Autosomal Dominant Dopa-Responsive Dy...	GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia	Yoshiaki Furukawa	Summary GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) is characterized by childhood-onset dystonia and a dramatic and sustained response to low doses of oral administration of levodopa. This disorder typically presents with gait disturbance caused by foot dystonia, later development of ...	## Diagnosis GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD) Onset typically in childhood following normal early motor development Onset of dystonia in a limb, typically foot dystonia (equinovarus posture) resulting in gait disturbance Later development of parkinsonism (tremor is main...	[ "E Antelmi, M Stamelou, R Liguori, KP Bhatia. Nonmotor symptoms in dopa-responsive dystonia.. Mov Disord Clin Pract. 2015;2:347-56", "L Arrabal, L Teresa, R Sánchez-Alcudia, M Castro, C Medrano, L Gutiérrez-Solana, S Roldán, A Ormazábal, C Pérez-Cerdá, B Merinero, B Pérez, R Artuch, M Ugarte, LR Desviat. Genotype...	21/2/2002	24/1/2019	3/5/2012	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
drpla	drpla	[ "Dentatorubral-Pallidoluysian Atrophy", "Dentatorubral-Pallidoluysian Atrophy", "Atrophin-1", "ATN1", "DRPLA" ]	DRPLA	Silvia Prades, Claudio Melo de Gusmao, Silvia Grimaldi, Yael Shiloh-Malawsky, Thomas Felton, Henry Houlden	Summary DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by five cardinal features (irrespective of the age of onset): ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Onset ranges from infancy to late adulthood (range: age 0-72 years...	## Diagnosis No consensus clinical diagnostic criteria for DRPLA (dentatorubral-pallidoluysian atrophy) have been published. DRPLA The diagnosis of DRPLA Note: Pathogenic CAG repeat expansions in Molecular Genetic Testing Used in DRPLA See See Note: To date, standard sequence-based multigene panels and exome ...	[]	6/8/1999	21/9/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
drrs	drrs	[ "Duane-Radial Ray Syndrome (DRRS) / Okihiro Syndrome", "Acro-Renal-Ocular Syndrome (AROS)", "SALL4-Related Holt-Oram Syndrome (HOS)", "Sal-like protein 4", "SALL4", "SALL4-Related Disorders" ]		Jürgen Kohlhase	Summary DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial po...	Duane-radial ray syndrome (DRRS) / Okihiro syndrome Acro-renal-ocular syndrome (AROS) For synonyms and outdated names see • Duane-radial ray syndrome (DRRS) / Okihiro syndrome • Acro-renal-ocular syndrome (AROS) ## Diagnosis Radial ray malformations Renal abnormalities: mild malrotation, ectopia, horseshoe kid...	[ "R Al-Baradie, K Yamada, C St Hilaire, WM Chan, C Andrews, N McIntosh, M Nakano, EJ Martonyi, WR Raymond, S Okumura, MM Okihiro, EC Engle. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.. Am J Hum Genet 2002;71:1195-9", "W Borozdin, D...	16/8/2004	17/3/2022	12/3/2008	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
duane	duane	[ "Duane Anomaly, Isolated", "Duane Retraction Syndrome", "Stilling-Turk-Duane Syndrome", "Duane Retraction Syndrome", "Stilling-Turk-Duane Syndrome", "Duane Anomaly, Isolated", "N-chimaerin", "Sal-like protein 4", "Transcription factor MafB", "CHN1", "MAFB", "SALL4", "Duane Syndrome" ]	Duane Syndrome	Brenda J Barry, Mary C Whitman, David G Hunter, Elizabeth C Engle	Summary Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve ...	## Diagnosis Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The diagnosis of Duane syndrome is based on clinical findings and classified into three types...	[]	25/5/2007	29/8/2019		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
duarte-gal	duarte-gal	[ "Duarte Galactosemia", "Duarte Galactosemia", "Galactose-1-phosphate uridylyltransferase", "GALT", "Duarte Variant Galactosemia" ]	Duarte Variant Galactosemia	Judith L Fridovich-Keil, Michael J Gambello, Rani H Singh, J Daniel Sharer	Summary Infants with Duarte variant galactosemia who receive breast milk or a high galactose-containing formula (dairy milk-based formula) are typically asymptomatic and show the same prevalence of acute issues seen in the general newborn population. For decades it has been unclear whether Duarte variant galactosemia r...	## Diagnosis Duarte variant galactosemia is defined by a combination of the following: One Erythrocyte galactose-1-phosphate uridylyltransferase (GALT) enzyme activity that is typically about 25% of control activity Duarte variant galactosemia, caused by a partial deficiency in erythrocyte galactose-1-phosphate uri...	[]	4/12/2014	23/5/2019	25/6/2020	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dup15q	dup15q	[ "Maternal Interstitial 15q11.2-q13.1 Duplication or Triplication", "Maternal Isodicentric 15q11.2-q13.1 Supernumerary Chromosome [idic(15)]", "Not applicable", "Not applicable", "Maternal 15q Duplication Syndrome" ]	Maternal 15q Duplication Syndrome	Laina Lusk, Vanessa Vogel-Farley, Charlotte DiStefano, Shafali Jeste	Summary Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death. Those with a maternal i...	Maternal isodicentric 15q11.2-q13.1 supernumerary chromosome [idic(15)] resulting in tetrasomy or hexasomy for 15q11.2-q13.1 Maternal interstitial 15q11.2-q13.1 duplication or triplication For synonyms and outdated terms see • Maternal isodicentric 15q11.2-q13.1 supernumerary chromosome [idic(15)] resulting in tetra...	[]	16/6/2016	15/7/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dup17q12	dup17q12	[ "Not applicable", "Not applicable", "17q12 Recurrent Duplication" ]	17q12 Recurrent Duplication	Heather Mefford	Summary The 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to severe disability and other variable clinical manifestations. Speech delay is common, and most affected individuals have some degree of hypotonia and gross motor delay. Behavioral and psychiatric conditions reporte...	## Diagnosis The 17q12 recurrent duplication Intellectual disability Developmental delays Seizures Ocular anomalies and/or vision problems Cardiac malformations Renal malformations Gastrointestinal abnormalities (e.g., duodenal obstruction) The diagnosis of the 17q12 recurrent duplication For this Note: The ...	[]	25/2/2016	29/4/2021	13/1/2022	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dup7q11_23	dup7q11_23	[ "Not applicable", "Not applicable", "7q11.23 Duplication Syndrome" ]	7q11.23 Duplication Syndrome	Carolyn B Mervis, Colleen A Morris, Bonita P Klein-Tasman, Shelley L Velleman, Lucy R Osborne	Summary 7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and p...	## Diagnosis 7q11.23 duplication syndrome Motor. Hypotonia, adventitious movements, abnormalities of gait and station, developmental coordination disorder in children Language. Speech delay, childhood apraxia of speech, dysarthria. Expressive language is usually more delayed than receptive language. Cognitive. Abou...	[]	25/11/2015	25/3/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dupl22q11	dupl22q11	[ "22q11.2 Microduplication Syndrome", "Microduplication 22q11.2", "Not applicable", "Not applicable", "22q11.2 Duplication" ]	22q11.2 Duplication – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Helen V Firth	Summary 22q11.2 duplication is defined for this The phenotype is not sufficiently distinct to be specifically suspected on clinical grounds alone. 22q11.2 duplication is not detectable by routine G-banded karyotyping. Most individuals with 22q11.2 duplication are identified by a chromosomal microarray. 22q11.2 duplica...	## Diagnosis 22q11.2 duplication is a recently described condition, with the first report appearing in 2003 [ Because chromosomal microarray testing is commonly performed as part of the evaluation of developmental delay or intellectual disability, this significant ascertainment bias makes the phenotype associated wit...	[ "A Alberti, C Romano, M Falco, F Calì, P Schinocca, O Galesi, A Spalletta, D Di Benedetto, M. Fichera. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.. Clin Genet. 2007;71:177-82", "W Courtens, I Schramme, A. Laridon. Microduplication 22q11.2: a benign...	17/2/2009	21/11/2013		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dync1h1-dis	dync1h1-dis	[ "DYNC1H1-Related Neuromuscular Disorder (DYNC1H1-NMD)", "DYNC1H1-Related Neurodevelopmental Disorder (DYNC1H1-NDD)", "Cytoplasmic dynein 1 heavy chain 1", "DYNC1H1", "DYNC1H1-Related Disorders" ]		Birk Möller, Antonietta Coppola, Heinz Jungbluth, Hormos Salimi Dafsari	Summary The diagnosis of a	Motor axonal neuropathy ± delayed motor milestones Developmental delay / intellectual disability Epilepsy Neurobehavioral/psychiatric manifestations Movement disorders ± malformations of cortical development CNS = central nervous system; PNS = peripheral nervous system Based on • Motor axonal neuropathy • ± d...	[]	21/3/2024			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dyrk1a-id	dyrk1a-id	[ "Dual specificity tyrosine-phosphorylation-regulated kinase 1A", "DYRK1A", "DYRK1A Syndrome" ]		Bregje WM van Bon, Bradley P Coe, Bert BA de Vries, Evan E Eichler	Summary The diagnosis of	## Diagnosis Intrauterine growth retardation Microcephaly Typical facial gestalt: During infancy and childhood facial features include prominent ears, deep-set eyes, mild upslanted palpebral fissures, a short nose with a broad nasal tip, and retrognathia with a broad chin. In adulthood, the nasal bridge may become...	[ "ATM Blackburn, N Bekheirnia, VC Uma, ME Corkins, Y Xu, JA Rosenfeld, MN Bainbridge, Y Yang, P Liu, S Madan-Khetarpal, MR Delgado, L Hudgins, I Krantz, D Rodriguez-Buritica, PG Wheeler, L Al-Gazali, A Mohamed Saeed Mohamed Al Shamsi, N Gomez-Ospina, HT Chao, GM Mirzaa, AE Scheuerle, MK Kukolich, F Scaglia, C Eng, H...	17/12/2015	18/3/2021		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dystonia-ov	dystonia-ov	[ "85/88 kDa calcium-independent phospholipase A2", "Arylsulfatase A", "Atrophin-1", "Battenin", "Beta-galactosidase", "Biotinidase", "Bis(monoacylglycero)phosphate synthase CLN5", "BTB/POZ domain-containing protein KCTD7", "Calcium/manganese antiporter SLC30A10", "Cathepsin D", "Cathepsin F", "...	Hereditary Dystonia Overview	Christine Klein, Katja Lohmann, Connie Marras, Alexander Münchau	Summary The purpose of this overview is to: Describe the Review the Provide an Review the Provide information regarding	## Clinical Characteristics of Dystonia Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements and/or postures. Dystonic movements are typically patterned and twisting, and may be associated with tremor. Dystonia is often initiated or...	[]	28/10/2003	22/6/2017		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
dystonia	dystonia	[ "Early-Onset Torsion Dystonia", "Oppenheim's Dystonia", "Early-Onset Torsion Dystonia", "Oppenheim's Dystonia", "Torsin-1A", "TOR1A", "DYT1 Early-Onset Isolated Dystonia" ]	DYT1 Early-Onset Isolated Dystonia	Laurie Ozelius, Naomi Lubarr	Summary DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writin...	## Diagnosis DYT1 early-onset isolated dystonia Isolated dystonia (defined as involuntary contraction of muscles that causes repetitive, patterned, and often twisting movements or postures) with: No other abnormalities on neurologic examination (except tremor); Normal routine neuroimaging; No history of known caus...	[]	14/4/1999	17/11/2016	23/11/2010	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ea1	ea1	[ "EA1", "EA1", "Potassium voltage-gated channel subfamily A member 1", "KCNA1", "Episodic Ataxia Type 1" ]	Episodic Ataxia Type 1	Sonia M Hasan, Maria Cristina D'Adamo	Summary Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms...	## Diagnosis No consensus diagnostic criteria for episodic ataxia type 1 (EA1) have been published. Episodic ataxia type 1 (EA1) Episodic attacks of: Generalized ataxia, loss of balance, and jerking movements of the head, arms, and legs Dysarthria Incoordination of hands Weakness Tremors Muscle twitching/sti...	[ "JP Adelman, CT Bond, M Pessia, J Maylie. Episodic ataxia results from voltage-dependent potassium channels with altered functions.. Neuron 1995;15:1449-54", "DL Browne, ST Gancher, JG Nutt, ER Brunt, EA Smith, P Kramer, M Litt. Episodic ataxia/myokymia syndrome is associated with point mutations in the human pot...	9/2/2010	31/5/2018	1/11/2018	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ea2	ea2	[ "EA2", "Voltage-dependent P/Q-type calcium channel subunit alpha-1A", "CACNA1A", "Episodic Ataxia Type 2" ]	Episodic Ataxia Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY	Sian Spacey	Summary Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. About 50% of individuals with EA2 have migraine headaches. Onset i...	## Diagnosis There are no formal clinical diagnostic criteria for the diagnosis of episodic ataxia type 2. Episodic ataxia type 2 (EA2) Episodic attacks: Including vertigo, gait and limb ataxia, and nystagmus lasting from five minutes to days, possibly associated with nausea and vomiting Provoked by exercise, em...	[]	24/2/2003	15/10/2015	30/6/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eb-pa	eb-pa	[ "EB-PA", "EB-PA", "Integrin alpha-6", "Integrin beta-4", "Plectin", "ITGA6", "ITGB4", "PLEC", "Epidermolysis Bullosa with Pyloric Atresia" ]	Epidermolysis Bullosa with Pyloric Atresia	Anne W Lucky, Emily Gorell	Summary Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often ...	## Diagnosis Epidermolysis bullosa with pyloric atresia (EB-PA) Fragility of the skin with: Blistering with little or no trauma. Blistering may be mild or severe. Blisters generally heal with no significant scarring. Significant oral and mucous membrane involvement Large areas of absent skin (aplasia cutis congeni...	[ "M Azarian, S Dreux, E Vuillard, G Meneguzzi, S Haber, F Guimiot, F Muller. Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review.. Prenat Diagn. 2006;26:57-9", "RY Birnbaum, D Landau, K Elbedour, R Ofir, OS Birk, R Carmi. Deletion of the fi...	22/2/2008	26/1/2023	28/4/2009	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ebd	ebd	[ "DEB", "Epidermolysis Bullosa Dystrophica", "Epidermolysis Bullosa Dystrophica", "DEB", "Dominant DEB (DDEB)", "Compound Heterozygous DEB", "Recessive DEB (RDEB)", "Collagen alpha-1(VII) chain", "COL7A1", "Dystrophic Epidermolysis Bullosa" ]	Dystrophic Epidermolysis Bullosa	Anne W Lucky, Elena Pope, Sarah Crawford	Summary Dystrophic epidermolysis bullosa (DEB) is characterized by skin fragility manifested by blistering and erosions with minimal trauma. Many individuals also have dystrophic or absent nails. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and ...	Recessive DEB (RDEB) Severe Intermediate Inversa Localized Pruriginosa Self-improving Dominant DEB (DDEB) Intermediate Localized Pruriginosa Self-improving Compound heterozygous DEB DEB, severe Based on For synonyms and outdated names see Individuals with one • Recessive DEB (RDEB) • Severe • Interme...	[]	21/8/2006	27/3/2025	7/8/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ebf3-ndd	ebf3-ndd	[ "Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS)", "Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS)", "Transcription factor COE3", "EBF3", "EBF3 Neurodevelopmental Disorder" ]		Dhanya Lakshmi Narayanan, Kerstin Kutsche, Katta M Girisha	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Microcephaly Generalized hypotonia Feeding difficulties Genitourinary abnormalities such as micropenis, cryptorchidism, vesicoureteral reflux, renal anomalies Strabismus Speech delay, mainly expressive speech delay, dysarthria Ataxia High pain threshol...	[ "SJ Beecroft, M Olive, LG Quereda, P Gallano, I Ojanguren, C McLean, P McCombe, NG Laing, G Ravenscroft. Cylindrical spirals in two families: Clinical and genetic investigations.. Neuromuscul Disord. 2020;30:151-8", "PR Blackburn, SS Barnett, MT Zimmermann, MA Cousin, C Kaiwar, E Pinto, F Vairo, Z Niu, MJ Ferber,...	6/5/2021			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ebj	ebj	[ "Collagen alpha-1(XVII) chain", "Integrin beta-4", "Laminin subunit alpha-3", "Laminin subunit beta-3", "Laminin subunit gamma-2", "COL17A1", "ITGB4", "LAMA3", "LAMB3", "LAMC2", "Junctional Epidermolysis Bullosa" ]	Junctional Epidermolysis Bullosa	Ellen G Pfendner, Anne W Lucky	Summary Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airwa...	## Diagnosis Junctional epidermolysis bullosa (JEB) Blistering with little or no trauma. Blistering may be mild or severe; however, blisters generally heal with no significant scarring. Significant oral and mucous membrane involvement Note: Blistering may be severe and granulation tissue can form on the skin around...	[ "N Almaani, L Liu, PJ Dopping-Hepenstal, PA Lovell, JE Lai-Cheong, RM Graham, JE Mellerio, JA McGrath. Autosomal dominant junctional epidermolysis bullosa.. Br J Dermatol. 2009;160:1094-7", "GH Ashton, P Sorelli, JE Mellerio, FM Keane, RA Eady, JA McGrath. Alpha 6 beta 4 integrin abnormalities in junctional epide...	22/2/2008	20/12/2018		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ebs	ebs	[ "Severe Epidermolysis Bullosa Simplex", "Intermediate Epidermolysis Bullosa Simplex", "Localized Epidermolysis Bullosa Simplex", "Epidermolysis Bullosa Simplex with Mottled Pigmentation", "Epidermolysis Bullosa Simplex, Intermediate with Muscular Dystrophy", "Epidermolysis Bullosa Simplex, Intermediate wi...	Epidermolysis Bullosa Simplex	Jodi Y So, Joyce Teng	Summary Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by ...	Epidermolysis Bullosa Simplex (EBS): Included Phenotypes Localized EBS Intermediate EBS Severe EBS EBS with mottled pigmentation EBS, intermediate with EBS, intermediate with muscular dystrophy EBS, severe with pyloric atresia EBS with migratory circinate erythema EBS, intermediate with cardiomyopathy EBS, lo...	[ "RJ Abitbol, LH Zhou. Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A.. Arch Dermatol 2009;145:13-5", "A Alkhalifah, C Chiaverini, A Charlesworth, C Has, JP Lacour. Burnlike scars: a sign suggestive of KLHL24-related epidermolysis bullosa simplex.. Pediatr Dermatol 201...	7/10/1998	4/8/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eccl	eccl	[ "Fishman Syndrome", "Haberland Syndrome", "Fishman Syndrome", "Haberland Syndrome", "Fibroblast growth factor receptor 1", "GTPase KRas", "FGFR1", "KRAS", "Encephalocraniocutaneous Lipomatosis" ]	Encephalocraniocutaneous Lipomatosis	Ute Moog, William B Dobyns	Summary Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplas...	## Diagnosis Clinical diagnostic criteria for encephalocraniocutaneous lipomatosis (ECCL) have been published [ ECCL Biopsy-proven nevus psiloliparus (NP) ( Possible NP in addition to one or more of the other minor skin criteria listed below Two or more minor skin criteria listed Intracranial lipoma ( Intras...	[]	27/1/2022			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
echs1-def	echs1-def	[ "ECHS1D", "ECHS1 Deficiency", "Mitochondrial Short-Chain Enoyl-CoA Hydratase Deficiency", "SCEH Deficiency", "ECHS1D", "ECHS1 Deficiency", "Mitochondrial Short-Chain Enoyl-CoA Hydratase Deficiency", "SCEH Deficiency", "Enoyl-CoA hydratase, mitochondrial", "ECHS1", "Mitochondrial Short-Chain Enoy...	Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency	Rebecca Ganetzky, Carol Stojinski	Summary Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms. Those wi...	## Diagnosis No consensus clinical diagnostic criteria for ECHS1 deficiency (ECHS1D) have been published. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) Developmental delay, often severe [ Infantile encephalopathy (may be epileptic), hypotonia, and/or spasticity [ Dystonia (exercise induce...	[]	20/6/2019			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ed2	ed2	[ "Clouston Syndrome", "Clouston Syndrome", "Gap junction beta-6 protein", "GJB6", "Hidrotic Ectodermal Dysplasia 2" ]	Hidrotic Ectodermal Dysplasia 2	Jemima Mellerio, Danielle Greenblatt	Summary Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. Progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childh...	## Diagnosis Hidrotic ectodermal dysplasia 2 (HED2, Clouston syndrome) The molecular diagnosis of HED2 Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be ...	[]	25/4/2005	15/10/2020	3/4/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
edm-ad	edm-ad	[ "Cartilage oligomeric matrix protein", "Collagen alpha-1(IX) chain", "Collagen alpha-2(IX) chain", "Collagen alpha-3(IX) chain", "Matrilin-3", "COL9A1", "COL9A2", "COL9A3", "COMP", "MATN3", "Multiple Epiphyseal Dysplasia, Autosomal Dominant" ]	Multiple Epiphyseal Dysplasia, Autosomal Dominant	Michael D Briggs, Michael J Wright, Geert R Mortier	Summary Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children report fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The l...	## Diagnosis Autosomal dominant multiple epiphyseal dysplasia (MED) Pain in the hips and/or knees and fatigue, often after exercise (frequently starting in early childhood) Adult height in the lower range of normal or mildly shortened Restricted range of movement at the major joints (e.g., elbows) Early-onset os...	[]	8/1/2003	4/7/2024		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
edm	edm	[ "SLC26A2-Related Recessive MED (SLC26A2-rMED)", "SLC26A2-Related Recessive MED (SLC26A2-rMED)", "Sulfate transporter", "SLC26A2", "SLC26A2-Related Multiple Epiphyseal Dysplasia" ]		Sheila Unger, Andrea Superti-Furga	Summary Diagnosis of	## Diagnosis Joint pain (usually in the hips and knees). Onset of pain is variable, but usually occurs in late childhood. Some individuals have no pain. Deformity of hands, feet, and knees Scoliosis Flat epiphyses with early arthritis (degenerative and painful changes in the articular cartilage of the hip joint...	[]	29/8/2002	19/1/2023		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
edmd	edmd	[ "Emerin", "Four and a half LIM domains protein 1", "Prelamin-A/C", "EMD", "FHL1", "LMNA", "Emery-Dreifuss Muscular Dystrophy" ]	Emery-Dreifuss Muscular Dystrophy	Gisèle Bonne, France Leturcq, Rabah Ben Yaou	Summary Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement t...	## Diagnosis Emery-Dreifuss muscular dystrophy (EDMD) Atrial fibrillation, flutter and standstill, supraventricular and ventricular arrhythmias, and atrio-ventricular and bundle-branch blocks may be identified on resting electrocardiography (EKG) or by 24-hour ambulatory EKG. Dilated or hypertrophic cardiomyopathy...	[ "RJ Aldwinckle, AS Carr. The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery.. Can J Anaesth 2002;49:467-70", "M Alsheimer, R Benavente. Change of karyoskeleton during mammalian spermatogenesis: expression pattern of nuclear lamin C2 and its regulation.. Exp Cell R...	29/9/2004	15/8/2019	24/8/2010	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eds-mc	eds-mc	[ "mcEDS", "Adducted Thumb-Clubfoot Syndrome (ATCS)", "Dündar Syndrome", "Ehlers-Danlos Syndrome, Kosho Type (EDS-KT)", "mcEDS", "Adducted Thumb-Clubfoot Syndrome (ATCS)", "Dündar Syndrome", "Ehlers-Danlos Syndrome, Kosho Type (EDS-KT)", "Carbohydrate sulfotransferase 14", "Dermatan-sulfate epimeras...	Musculocontractural Ehlers-Danlos Syndrome	Tomoki Kosho, Tomomi Yamaguchi, Shuji Mizumoto, Roberto Mendoza-Londono	Summary Musculocontractural Ehlers-Danlos syndrome (mcEDS) is characterized by multiple congenital contractures, progressive foot and ankle deformities, hypermobility of the small joints, recurrent dislocations, spinal deformities, characteristic craniofacial features (large anterior fontanel with delayed closure, shor...	## Diagnosis No consensus clinical diagnostic criteria for musculocontractural Ehlers-Danlos syndrome (mcEDS) have been published. Musculocontractural EDS Multiple congenital contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot) Characteristic craniofacial features,...	[]	15/5/2025			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eds-pd	eds-pd	[ "EDS Type VIII", "pEDS", "pEDS", "EDS Type VIII", "Complement C1r subcomponent", "Complement C1s subcomponent", "C1R", "C1S", "Periodontal Ehlers-Danlos Syndrome" ]	Periodontal Ehlers-Danlos Syndrome	Ines Kapferer-Seebacher, Fleur S van Dijk, Johannes Zschocke	Summary Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically inc...	## Diagnosis Formal clinical diagnostic criteria for periodontal Ehlers-Danlos syndrome (pEDS) were established in the 2017 revised Ehlers-Danlos syndrome nosology [ Periodontal Ehlers-Danlos syndrome (pEDS) Severe periodontitis of early onset (childhood or adolescence) Generalized lack of attached gingiva ( Pre...	[ "JM Albandar. Aggressive and acute periodontal diseases.. Periodontol 2000 2014;65:7-12", "I Bally, F Dalonneau, A Chouquet, R Grobner, A Amberger, I Kapferer-Seebacher, H Stoiber, J Zschocke, NM Thielens, V Rossi, C Gaboriaud. Two different missense C1S mutations, associated to periodontal Ehlers-Danlos syndrome...	29/7/2021			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eds	eds	[ "Classical Ehlers-Danlos Syndrome", "Ehlers-Danlos Syndrome, Classical Type", "cEDS", "Classical Ehlers-Danlos Syndrome", "Ehlers-Danlos Syndrome, Classical Type", "cEDS", "Ehlers-Danlos Syndrome, Classic Type, COL5A1-Related", "Ehlers-Danlos Syndrome, Classic Type, COL5A2-Related", "Collagen alpha-...	Classic Ehlers-Danlos Syndrome	Fransiska Malfait, Sofie Symoens, Delfien Syx	Summary Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft, velvety, or doughy to the touch. In addition, the skin is hyperextensible, meaning that it extends easily and ...	## Diagnosis There are no consensus clinical diagnostic criteria for classic Ehlers-Danlos syndrome (cEDS); diagnosis requires molecular testing. Classic EDS should be suspected in a proband with either of the following: OR Beighton Criteria for Joint Hypermobility A total score of ≥5 is considered positive for ...	[]	29/5/2007	1/2/2024	11/5/2010	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eds3	eds3	[ "Ehlers-Danlos Syndrome Hypermobility Type", "Ehlers-Danlos Syndrome Type III", "hEDS", "hEDS", "Ehlers-Danlos Syndrome Hypermobility Type", "Ehlers-Danlos Syndrome Type III", "Hypermobile Ehlers-Danlos Syndrome" ]	Hypermobile Ehlers-Danlos Syndrome	Alan Hakim	Summary Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility, joint instability, pain, soft and hyperextensible skin with atrophic scars and easy bruising, dental crowding, abdominal hernias, pelvic organ prolapse, marfanoid body habitus, mitral valve prolapse, and aortic root d...	## Diagnosis The diagnostic criteria for hypermobile Ehlers-Danlos syndrome (hEDS) were revised by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders in 2017 [ Hypermobile EDS should be suspected in adult probands (individuals who have reached biologic maturity) with the foll...	[]	22/10/2004	22/2/2024	21/6/2018	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eds4	eds4	[ "EDS Type IV", "Ehlers-Danlos Syndrome, Vascular Type", "vEDS", "Ehlers-Danlos Syndrome, Vascular Type", "EDS Type IV", "vEDS", "Collagen alpha-1(III) chain", "COL3A1", "Vascular Ehlers-Danlos Syndrome" ]	Vascular Ehlers-Danlos Syndrome	Peter H Byers	Summary Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the ...	## Diagnosis No consensus clinical diagnostic criteria for vascular Ehlers-Danlos syndrome (vEDS) have been published. When the diagnosis is suspected on clinical grounds, molecular diagnostic testing of Vascular EDS Arterial aneurysms, dissection, or rupture Intestinal rupture, most often in the sigmoid colon U...	[]	2/9/1999	10/4/2025	25/1/2005	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eds6	eds6	[ "Ehlers-Danlos Syndrome Type VIA (EDS VIA)", "Lysyl-Hydroxylase 1 Deficiency", "PLOD1-kEDS", "Ehlers-Danlos Syndrome Type VIA (EDS VIA),", "Lysyl-Hydroxylase 1 Deficiency", "PLOD1-kEDS", "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1", "PLOD1", "PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrom...		Marianne Rohrbach, Cecilia Giunta	Summary The diagnosis of	## Diagnosis Congenital muscular hypotonia Congenital or early-onset kyphoscoliosis (progressive or nonprogressive) Generalized joint hypermobility with dislocations/subluxations (shoulders, hips, and knees in particular) Skin hyperextensibility Skin fragility (easy bruising, friable skin, poor wound healing, ...	[]	2/2/2000	13/6/2024	18/10/2018	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ee	ee	[ "ETHE1 Deficiency", "ETHE1 Deficiency", "Persulfide dioxygenase ETHE1, mitochondrial", "ETHE1", "Ethylmalonic Encephalopathy" ]	Ethylmalonic Encephalopathy	Ivano Di Meo, Costanza Lamperti, Valeria Tiranti	Summary Ethylmalonic encephalopathy (EE) is a severe, early-onset, progressive disorder characterized by developmental delay / mild-to-severe intellectual disability; generalized infantile hypotonia that evolves into hypertonia, spasticity, and (in some instances) dystonia; generalized tonic-clonic seizures; and genera...	## Diagnosis Ethylmalonic encephalopathy (EE) Global neurologic impairment Early-onset progressive psychomotor regression Seizures Dystonia Diffuse microvasculature injury Petechiae and/or purpura Orthostatic acrocyanosis Hemorrhagic suffusions of mucosal surfaces Chronic hemorrhagic diarrhea Increased b...	[ "AB Burlina, C Dionisi-Vici, MJ Bennett, KM Gibson, S Servidei, E Bertini, DE Hale, E Schmidt-Sommerfeld, G Sabetta, F Zacchello. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.. J Pediatr. 1994;124:79-86", "I Di Meo, A Auricchio, C Lamperti, A Burlina, C Viscomi, M. Zevi...	21/9/2017			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eed-og	eed-og	[ "Polycomb protein EED", "EED", "EED-Related Overgrowth" ]		Ana Sequerra Amram Cohen, William Thomas Gibson	Summary The diagnosis of	## Diagnosis Overgrowth manifesting as: Tall stature (z score ≥2 for age, equivalent to standard deviation ≥2 above the mean) Note: An adult of normal stature who had relatively tall stature and/or advanced bone age in childhood or adolescence could meet criteria for overgrowth. Macrocephaly (z score ≥2 for age) ...	[]	11/4/2019	8/5/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
efemp2-cutis-laxa	efemp2-cutis-laxa	[ "Autosomal Recessive Cutis Laxa Type 1B (ARCL1B)", "Autosomal Recessive Cutis Laxa Type 1B (ARCL1B)", "EGF-containing fibulin-like extracellular matrix protein 2", "EFEMP2", "EFEMP2-Related Cutis Laxa" ]		Bart Loeys, Anne De Paepe, Zsolt Urban	Summary The diagnosis of	## Diagnosis The diagnosis of Arterial and aortic tortuosity Aortic and arterial aneurysms. The ascending aorta and aortic arch are typically most dilated. Aortic stenosis. The isthmus aorta in particular is often stenotic. Stenosis and dilatation of pulmonary arteries Pulmonary hypertension Hemorrhagic stroke...	[ "CS Adamo, A Beyens, A Schiavinato, DR Keene, SF Tufa, M Mörgelin, J Brinckmann, T Sasaki, A Niehoff, M Dreiner, L Pottie, L Muiño-Mosquera, EY Gulec, A Gezdirici, P Braghetta, P Bonaldo, R Wagener, M Paulsson, H Bornaun, R De Rycke, M De Bruyne, F Baeke, WP Devine, B Gangaram, A Tam, M Balasubramanian, S Ellard, S...	12/5/2011	22/10/2020	15/6/2023	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
el-hattab-alkuraya	el-hattab-alkuraya	[ "WDR45B-Related Neurodevelopmental Disorder", "WDR45B-Related Neurodevelopmental Disorder", "WD repeat domain phosphoinositide-interacting protein 3", "WDR45B", "El-Hattab-Alkuraya Syndrome" ]	El-Hattab-Alkuraya Syndrome	Mohammed Almannai, Dana Marafi, Ayman W El-Hattab	Summary El-Hattab-Alkuraya syndrome is characterized by microcephaly (often early onset and progressive); severe-to-profound developmental delay; refractory and early-onset seizures; spastic quadriplegia with axial hypotonia; and growth deficiency with poor weight gain and short stature. Characteristic findings on brai...	## Diagnosis El-Hattab-Alkuraya syndrome Progressive microcephaly Developmental delay Early-onset, refractory seizures Spastic quadriplegia Growth deficiency (poor weight gain, short stature) Cerebral atrophy with disproportionate atrophy of the frontal lobes Brain stem volume loss with flattening of the be...	[ "M Almannai, D Marafi, GMH Abdel-Salam, MS Zaki, R Duan, D Calame, I Herman, F Levesque, HM Elbendary, I Hegazy, WK Chung, H Kavus, K Saeidi, R Maroofian, A AlHashim, A Al-Otaibi, A Al Madhi, HM Abou Al-Seood, A Alasmari, H Houlden, JG Gleeson, JV Hunter, JE Posey, JR Lupski, AW El-Hattab. El-Hattab-Alkuraya syndro...	29/9/2022			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
eln-cutis-laxa	eln-cutis-laxa	[ "Autosomal Dominant Cutis Laxa Type 1 (ADCL1)", "Autosomal Dominant Cutis Laxa Type 1 (ADCL1)", "Elastin", "ELN", "ELN-Related Cutis Laxa" ]		Bert L Callewaert, Zsolt Urban	Summary The diagnosis of	## Diagnosis No consensus clinical diagnostic criteria for Inguinal hernia, with increased risk at all ages Joint hyperlaxity Aortic root dilatation Emphysema Ptosis (eyelid drooping that can be caused by skin laxity) Facial characteristics that may become more prominent with age: large ears, convex nasal ridg...	[ "L Basel-Vanagaite, O Sarig, D Hershkovitz, D Fuchs-Telem, D Rapaport, A Gat, G Isman, I Shirazi, M Shohat, CD Enk, E Birk, J Kohlhase, U Matysiak-Scholze, I Maya, C Knopf, A Peffekoven, HC Hennies, R Bergman, M Horowitz, A Ishida-Yamamoto, E Sprecher. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, ...	29/9/2022			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
emanuel	emanuel	[ "Supernumerary der(22)t(11;22) Syndrome", "Supernumerary der(22)t(11;22) Syndrome", "Emanuel Syndrome" ]	Emanuel Syndrome	Beverly S Emanuel, Elaine H Zackai, Livija Medne	Summary Emanuel syndrome is characterized by pre- and postnatal growth deficiency, microcephaly, hypotonia, severe developmental delays, ear anomalies, preauricular tags or pits, cleft or high-arched palate, congenital heart defects, kidney abnormalities, and genital abnormalities in males. The diagnosis of Emanuel syn...	## Diagnosis Emanuel syndrome Severe intellectual disability Microcephaly Failure to thrive Preauricular tag or pit Ear anomalies Cleft or high-arched palate Micrognathia Kidney abnormalities Congenital heart defects Genital abnormalities in males The diagnosis of Emanuel syndrome Most commonly: 47,XX,+de...	[ "MT Carter, NJ Barrowman, SA St Pierre, BS Emanuel, KM Boycott. Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees.. Am J Med Genet A. 2010;152A:212-4", "M Fraccaro, J Lindsten, CE Ford, L Iselius. The 11q;22q translocation: a European collaborative analysis of 43 cases....	20/4/2007	31/8/2017		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
emc10-ndd	emc10-ndd	[ "ER membrane protein complex subunit 10", "EMC10", "EMC10-Related Neurodevelopmental Disorder" ]		Muhammad Umair, Majid Alfadhel	Summary The diagnosis of	## Diagnosis Moderate-to-severe developmental delay Mild-to-severe intellectual disability Behavioral abnormalities and impaired social skills Seizures: multifocal, generalized tonic–clonic, and/or febrile Poor weight gain and growth deficiency Microcephaly (in some individuals) Upper limb anomalies: cubitus v...	[ "E Haddad-Eid, N Gur, S Eid, T Pilowsky-Peleg, R Straussberg. The phenotype of homozygous EMC10 variant: a new syndrome with intellectual disability and language impairment.. Eur J Paediatr Neurol. 2022;37:56-61", "MC Jonikas, SR Collins, V Denic, E Oh, EM Quan, V Schmid, J Weibezahn, B Schwappach, P Walter, JS W...	15/6/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
entpd1-ndd	entpd1-ndd	[ "Autosomal Recessive Spastic Paraplegia 64", "HSP-ENTPD1", "Spastic Paraplegia 64 (SPG64)", "HSP-ENTPD1", "Spastic Paraplegia 64 (SPG64)", "Autosomal Recessive Spastic Paraplegia 64", "Ectonucleoside triphosphate diphosphohydrolase 1", "ENTPD1", "ENTPD1-Related Neurodevelopmental Disorder" ]		Daniel Calame, Isabella Herman	Summary Other neuromuscular findings can include abnormal deep tendon reflexes, weakness, neuropathy, epilepsy, dysarthria, and dysphagia. Behavior abnormalities and neurocognitive regression are common. Life span does not appear to be shortened. The diagnosis of	## Diagnosis Developmental delay / intellectual disability Abnormal reflexes (hyperreflexia, hyporeflexia, and/or areflexia with gait impairment by age five years) Behavioral concerns (attention-deficit/hyperactivity disorder, aggression, autistic features) Neurocognitive regression not attributed to progressive ...	[ "C. Blackstone. Hereditary spastic paraplegia.. Handb Clin Neurol. 2018;148:633-52", "DG Calame, I Herman, R Maroofian, AE Marshall, KC Donis, JM Fatih, T Mitani, H Du, CM Grochowski, SB Sousa, C Gijavanekar, S Bakhtiari, YA Ito, C Rocca, JV Hunter, VR Sutton, LT Emrick, KM Boycott, A Lossos, Y Fellig, E Prus, Y ...	1/6/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
epb42-spherocytosis	epb42-spherocytosis	[ "Protein 4.2", "EPB42", "EPB42-Related Hereditary Spherocytosis" ]		Theodosia A Kalfa, Amber H Begtrup	Summary Typical laboratory findings in EPB42-HS include anemia (decreased hemoglobin [Hgb] level) and reticulocytosis (increased percentage of reticulocytes), with high mean corpuscular Hgb concentration, presence of spherocytes in the peripheral blood smear, significantly decreased or absent haptoglobin, mildly increa...	## Diagnosis Pallor and/or fatigue due to anemia, which is usually of mild-to-moderate severity Jaundice Usually intermittent and caused by unconjugated hyperbilirubinemia resulting from exacerbated hemolysis In rare instances, caused by conjugated hyperbilirubinemia resulting from biliary obstruction Splenomega...	[]	13/3/2014	7/4/2022		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
epg5	epg5	[ "Vici Syndrome", "Ectopic P granules protein 5 homolog", "EPG5", "EPG5-Related Disorder" ]		Hormos Salimi Dafsari, Darius Ebrahimi-Fakhari, Afshin Saffari, Celine Deneubourg, Manolis Fanto, Heinz Jungbluth	Summary With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of The diagnosis of Of particular note, rigorous and early antibacterial and antifungal treatment (potentially in an intensive care unit setting) should be considered for ch...	With the current widespread use of multigene panels and comprehensive genomic testing based on an unbiased (i.e., not phenotype-driven) approach, it has become apparent that the phenotypic spectrum associated with biallelic ## Diagnosis At the more severe end of the spectrum of Thymic aplasia or hypoplasia [ Se...	[ "S Aggarwal, A Tandon, AD Bhowmik, A Dalal. Autopsy findings in EPG5-related Vici syndrome with antenatal onset: additional report of Focal cortical microdysgenesis in a second trimester fetus.. Am J Med Genet A. 2018;176:499-501", "M Al-Owain, A Al-Hashem, M Al-Muhaizea, H Humaidan, H Al-Hindi, I Al-Homoud, I Al...	13/10/2022			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
epm1	epm1	[ "EPM1", "Unverricht-Lundborg Disease (ULD)", "EPM1", "Unverricht-Lundborg Disease (ULD)", "Cystatin-B", "CSTB", "Progressive Myoclonic Epilepsy Type 1" ]	Progressive Myoclonic Epilepsy Type 1	Anna-Elina Lehesjoki, Reetta Kälviäinen	Summary Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 ar...	## Diagnosis The diagnosis of progressive myoclonic epilepsy type 1 (EPM1) Involuntary, action-activated myoclonic jerks AND/OR generalized tonic-clonic seizures Photosensitive, generalized spike-and-wave and polyspike-and-wave paroxysms on EEG Abnormal EEG (always abnormal, even before the onset of manifestations)...	[ "G Assenza, A Benvenga, E Gennaro, M Tombini, C Campana, F Assenza, G Di Pino, V. Di Lazzaro. A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.. Epilepsia. 2017;58:e31-5", "A Buzzi, M Chikhladze, C Falcicchia, B Paradiso, G Lanza, M Soukupo...	24/6/2004	2/7/2020	18/9/2007	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
epp-ar	epp-ar	[ "Ferrochelatase, mitochondrial", "FECH", "Erythropoietic Protoporphyria, Autosomal Recessive" ]	Erythropoietic Protoporphyria, Autosomal Recessive	Manisha Balwani, Joseph Bloomer, Robert Desnick	Summary Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. Symptoms (which may see...	## Diagnosis Erythropoietic protoporphyria (EPP) Cutaneous photosensitivity, usually beginning in childhood Burning, tingling, and itching (the most common findings); may occur within minutes of sun/light exposure, followed later by erythema and swelling Burning, itching, and intense pain; may occur without obvio...	[ "C Aplin, SD Whatley, P Thompson, T Hoy, P Fisher, C Singer, CR Lovell, GH Elder. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.. J Invest Dermatol 2001;117:1647-9", "M Balwani, D Doheny, DF Bishop, I Nazarenko, M Yasuda, HA Dailey, KE Anderson, DM Bissell, J Bloomer, ...	27/9/2012	7/9/2017		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
epp-xl	epp-xl	[ "5-aminolevulinate synthase, erythroid-specific, mitochondrial", "ALAS2", "X-Linked Protoporphyria" ]	X-Linked Protoporphyria	Manisha Balwani, Robert Desnick	Summary X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Blistering lesions are uncommon. Pa...	## Diagnosis There are no established guidelines or diagnostic algorithms. X-linked protoporphyria (XLP) should be suspected in individuals with the following clinical findings and initial laboratory findings. Cutaneous photosensitivity, usually beginning in childhood Burning, tingling, pain, and itching of the s...	[ "C Aplin, SD Whatley, P Thompson, T Hoy, P Fisher, C Singer, CR Lovell, GH Elder. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.. J Invest Dermatol. 2001;117:1647-9", "M Balwani, D Doheny, DF Bishop, I Nazarenko, M Yasuda, HA Dailey, KE Anderson, DM Bissell, J Bloomer,...	14/2/2013	27/11/2019		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
etha	etha	[ "SCN9A Erythromelalgia (SCN9A-EM)", "SCN9A Paroxysmal Extreme Pain Disorder (SCN9A-PEPD)", "SCN9A Small Fiber Neuropathy (SCN9A-SFN)", "Sodium channel protein type 9 subunit alpha", "SCN9A", "SCN9A Neuropathic Pain Syndromes" ]		Fuki M Hisama, Sulayman D Dib-Hajj, Stephen G Waxman	Summary The diagnosis of	For synonyms and outdated names see For other genetic causes of these phenotypes, see ## Diagnosis An Recurrent episodes of bilateral intense, burning pain; Redness, warmth, and occasionally swelling of the distal extremities; Feet more commonly affected than the hands; although in severely affected individuals, ...	[ "JS Choi, X Cheng, E Foster, A Leffler, L Tyrrell, RH Te Morsche, EM Eastman, HJ Jansen, K Huehne, C Nau, SD Dib-Hajj, JP Drenth, SG Waxman. Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.. Brain. 2010;133:1823-35", "JS Choi, L Zhang, SD Dib-Hajj, C Han, L Tyrrell...	6/5/2006	23/1/2020	25/9/2008	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
etv6-tpl	etv6-tpl	[ "ETV6-Linked Leukemia / Familial Thrombocytopenia Syndrome", "Thrombocytopenia 5 (THC5)", "ETV6-Linked Leukemia/Familial Thrombocytopenia Syndrome", "Thrombocytopenia 5 (THC5)", "Transcription factor ETV6", "ETV6", "ETV6-Related Thrombocytopenia and Predisposition to Leukemia" ]		Bojana Pencheva, Jorge Di Paola, Christopher C Porter	Summary Individuals with The diagnosis of	## Diagnosis Absent-to-moderate bleeding tendencies (e.g., menorrhagia, epistaxis, easy bruising, gum bleeding) Hematologic malignancies, including: B-cell acute lymphoblastic leukemia (B-ALL), which is the most common Acute myeloid leukemia (AML) Myelodysplastic syndrome (MDS) Myeloproliferative neoplasms (MPN...	[]	19/11/2020	26/6/2025		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
evc	evc	[ "Chondroectodermal Dysplasia (Ellis-van Creveld)", "Chondroectodermal Dysplasia (Ellis-van Creveld)", "cAMP-dependent protein kinase catalytic subunit alpha", "cAMP-dependent protein kinase catalytic subunit beta", "Cytoplasmic dynein 2 heavy chain 1", "Cytoplasmic dynein 2 light intermediate chain 1", ...	Ellis-van Creveld Syndrome	Jorge Diogo Da Silva, Nataliya Tkachenko, Ana Rita Soares	Summary Ellis-van Creveld (EVC) syndrome is characterized by postaxial polydactyly of the hands, disproportionate short stature with short limbs, dystrophic and/or hypoplastic nails, dental and oral manifestations, congenital heart disease, and radiologic abnormalities (narrow chest, short ribs, short tubular bones, bu...	## Diagnosis No consensus clinical diagnostic criteria for Ellis-van Creveld (EVC) syndrome have been published. EVC syndrome Bilateral postaxial polydactyly of the hands (see Limb shortening (prenatal or postnatal) Disproportionate short stature (prenatal or postnatal onset) Dystrophic and/or hypoplastic nails...	[]	26/10/2023			GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
exoc6b-semd	exoc6b-semd	[ "Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)", "Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)", "Exocyst complex component 6B", "EXOC6B", "EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity" ]		Gandham SriLakshmi Bhavani, Swati Singh, Katta Mohan Girisha	Summary The diagnosis of	## Diagnosis Congenital dislocations of the hips and knees; may also affect elbows, wrists, and/or ankles Joint laxity affecting all joints and most evident at the wrists and fingers Postnatal-onset short stature Slender fingers (leptodactyly) Genu valgum Pes planus Delayed carpal/tarsal bone ossification S...	[]	25/5/2023		17/7/2025	GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
exosc3-pc-hypo-p	exosc3-pc-hypo-p	[ "Pontocerebellar Hypoplasia Type 1B (PCH1B)", "Pontocerebellar Hypoplasia Type 1B (PCH1B)", "Exosome complex component RRP40", "EXOSC3", "EXOSC3 Pontocerebellar Hypoplasia" ]		Frank Baas, Tessa van Dijk	Summary The diagnosis of	## Diagnosis Diagnosis of Hypotonia (onset is usually at birth, but a later onset is possible) Signs of neurogenic muscle atrophy, such as muscle atrophy and decreased tendon reflexes Central motor neuron signs (spasticity, dystonia), especially in individuals with prolonged survival Lower motor neuron involveme...	[ "R Biancheri, D Cassandrini, F Pinto, R Trovato, M Di Rocco, M Mirabelli-Badenier, M Pedemonte, C Panicucci, H Trucks, T Sander, F Zara, A Rossi, P Striano, C Minetti, FM Santorelli. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.. J Neurol. 2013;260:1866-70", "AP Di Giova...	21/8/2014	24/9/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]
ext	ext	[ "Diaphyseal Aclasis", "Hereditary Multiple Exostoses", "Multiple Cartilaginous Exostoses", "Multiple Cartilaginous Exostoses", "Diaphyseal Aclasis", "Hereditary Multiple Exostoses", "Exostosin-1", "Exostosin-2", "EXT1", "EXT2", "Hereditary Multiple Osteochondromas" ]	Hereditary Multiple Osteochondromas	Wim Wuyts, Gregory A Schmale, Howard A Chansky, Wendy H Raskind	Summary Hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growt...	## Diagnosis No consensus clinical diagnostic criteria for hereditary multiple osteochondromas (HMO) have been published. Hereditary multiple osteochondromas (HMO) Multiple osteochondromas (cartilage-capped bony growths) arising from the area of the growth plate in the juxtaphyseal region of long bones or from the s...	[ "H Abdolrazaghi, A Riyahi, M Taghavi, P Farshidmehr, A Mohammadbeigi. Concomitant neurogenic and vascular thoracic outlet syndrome due to multiple exostoses.. Ann Card Anaesth. 2018;21:71-3", "F Abdullah, R Kanard, D Femino, H Ford, J Stein. Osteochondroma causing diaphragmatic rupture and bowel obstruction in a ...	3/8/2000	6/8/2020		GeneReviews®	https://www.ncbi.nlm.nih.gov/books/NBK1116/	[ "Review", "Clinical Review" ]

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