OGDHL

oxoglutarate dehydrogenase L
OMIM: 617513, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green OGDHL in Mendeliome Version 2.588	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Green OGDHL in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.42 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Green OGDHL in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Green OGDHL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Green OGDHL in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.157 Component of the following Super Panels: Movement Disorders Superpanel Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yoon-Bellen neurodevelopmental syndrome, MONDO:0859221