OBO ID: DOID:0080126
Term Name: mitochondrial DNA depletion syndrome 7 Search Ontology:
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. (3)
References:
Ontology: Human Disease   (DOID:0080126)
OTHER mitochondrial DNA depletion syndrome 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TWNK Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None