DISEASES

Disease-gene associations mined from literature

Human genes for ethylmalonic encephalopathy

Ethylmalonic encephalopathy [DOID:0060640]

A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.

Synonyms:  ethylmalonic encephalopathy,  DOID:0060640