mitochondrial DNA depletion syndrome 7 (DOID:0080126)
Alliance: disease page
Synonyms: infantile onset spinocerebellar ataxia; OHAHA SYNDROME
Alt IDs: OMIM:271245, MESH:C535523
Definition: A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.