Term Name: | Alpers-Huttenlocher syndrome |
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Synonyms: | Alpers disease, Alpers progressive infantile poliodystrophy, Alpers syndrome, Diffuse Cerebral Sclerosis of Schilder, mitochondrial DNA depletion syndrome 4a |
Definition: | A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. |
Ontology: | Human Disease [DOID:0080122] ( DOID:0080122 ) |