Term Name: combined oxidative phosphorylation deficiency 38
Synonyms: COXPD38
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1.
Ontology: Human Disease [DOID:0111466]   ( DOID:0111466 )

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