Term Name:	ethylmalonic encephalopathy
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0060640]   ( DOID:0060640 )