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Human Disease

combined oxidative phosphorylation deficiency 35

Term ID
DOID:0111464
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. (2)
References
Ontology
Human Disease   ( DOID:0111464 )
Relationships
is a type of
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Genes Involved
Zebrafish Models