Term Name: combined oxidative phosphorylation deficiency 35
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 the TRIT1 gene on chromosome 1p34.2.
Ontology: Human Disease [DOID:0111464]   ( DOID:0111464 )

Relationships
is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency