combined oxidative phosphorylation deficiency 35
Information
- Disease name
- combined oxidative phosphorylation deficiency 35
- Disease ID
- DOID:0111464
- Description
- "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24901367, url:https\://www.ncbi.nlm.nih.gov/pubmed/28185376]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060286
- Cross Reference ID (Disease Ontology)
- MIM:617873
- Exact Synonym (Disease Ontology)
- COXPD35