Search Ontology:
Human Disease
mitochondrial DNA depletion syndrome 7
- Term ID
- DOID:0080126
- Synonyms
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- 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
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- GARD:4062
- MESH:C535523
- MIM:271245
- Ontology
- Human Disease ( DOID:0080126 )
- is a type of
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Genes Involved
Zebrafish Models