OGDHL

oxoglutarate dehydrogenase like
OMIM: 617513, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green OGDHL in Mendeliome


Version 1.1891

review 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 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review 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 1.194

    review 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 0.6063

    review 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