Term Name: combined oxidative phosphorylation deficiency 39
Synonyms: COXPD39
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.
Ontology: Human Disease [DOID:0111475]   ( DOID:0111475 )

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