Human genes for Alpers-Huttenlocher syndrome
Alpers-Huttenlocher syndrome [DOID:0080122]
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.
Synonyms: Alpers-Huttenlocher syndrome, AlpersHuttenlocher syndrome, Alpers-Huttenlocher disease, Alpers-Huttenlocher disorder, Alpers-Huttenlocher syndromes ...