|OBO ID: DOID:0080122|
|Term Name:||Alpers-Huttenlocher syndrome||Search Ontology:|
|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. (5)|
|Ontology:||Human Disease (DOID:0080122)|
|is a type of:||
OTHER Alpers-Huttenlocher syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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