OBO ID: DOID:0111464
Term Name: combined oxidative phosphorylation deficiency 35 Search Ontology:
Synonyms:
  • COXPD35
Definition: 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 TRIT1 on chromosome 1p34.2. (2)
References:
Ontology: Human Disease   (DOID:0111464)
OTHER combined oxidative phosphorylation deficiency 35 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRIT1 Combined oxidative phosphorylation deficiency 35 617873
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None