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Human Disease

mitochondrial DNA depletion syndrome 7

Term ID
DOID:0080126
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models