Term Name: combined oxidative phosphorylation deficiency 45
Synonyms: COXPD45
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.
Ontology: Human Disease [DOID:0112113]   ( DOID:0112113 )

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