Term Name: combined oxidative phosphorylation deficiency 16
Synonyms: COXPD16, infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.
Ontology: Human Disease [DOID:0111469]   ( DOID:0111469 )

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