Term Name: combined oxidative phosphorylation deficiency 49
Synonyms: COXPD49
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.
Ontology: Human Disease [DOID:0112110]   ( DOID:0112110 )

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