| Metadata | |
|---|---|
| ID | DOID:0080126 |
| Name | mitochondrial DNA depletion syndrome 7 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/18775955, https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia, https://www.ncbi.nlm.nih.gov/pubmed/30391088 |
| Xrefs | |
| Alternateids |
DOID:0050556 |
| Subsets |
DO_rare_slim |
| Synonyms |
infantile onset spinocerebellar ataxia [EXACT] OHAHA SYNDROME [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |