OBO ID: DOID:0080126 |
Term Name: | mitochondrial DNA depletion syndrome 7 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080126 ) |
OTHER mitochondrial DNA depletion syndrome 7 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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