Term Name: combined oxidative phosphorylation deficiency 33
Synonyms: COXPD33
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
Ontology: Human Disease [DOID:0111495]   ( DOID:0111495 )

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