Metadata | |
---|---|
ID | DOID:0111464 |
Name | combined oxidative phosphorylation deficiency 35 |
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 the TRIT1 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/24901367, https://www.ncbi.nlm.nih.gov/pubmed/28185376 |
Xrefs | |
Synonyms |
COXPD35 [EXACT] |
Parent Relationships |