MDH1

malate dehydrogenase 1
OMIM: 154200, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MDH1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • epilepsy
  • microcephaly
  • intellectual disability
  • Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959

Amber MDH1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • epilepsy
  • microcephaly
  • intellectual disability
  • Epileptic encephalopathy, early infantile, 88, MIM#618959