Human genes for mitochondrial DNA depletion syndrome 7
Mitochondrial DNA depletion syndrome 7 [DOID:0080126]
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.
Synonyms: mitochondrial DNA depletion syndrome 7, DOID:0080126, infantile onset spinocerebellar ataxia, OHAHA SYNDROME, infantile onset spinocerebellar ataxias ...