|OBO ID: DOID:0080126|
|Term Name:||mitochondrial DNA depletion syndrome 7||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0080126)|
|is a type of:||
OTHER mitochondrial DNA depletion syndrome 7 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.