Term Name: combined oxidative phosphorylation deficiency 4
Synonyms: COXPD4
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.
Ontology: Human Disease [DOID:0111494]   ( DOID:0111494 )

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