Term Name: combined oxidative phosphorylation deficiency 15
Synonyms: COXPD15
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31.
Ontology: Human Disease [DOID:0111491]   ( DOID:0111491 )

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