OGDHL

oxoglutarate dehydrogenase L
OMIM: 617513, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green OGDHL in Mendeliome


Version 2.0

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 2.0

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 2.0

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 2.0

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