Term Name:	mitochondrial DNA depletion syndrome 7
Synonyms:	infantile onset spinocerebellar ataxia
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.
Ontology:	Human Disease [DOID:0080126]   ( DOID:0080126 )