Term Name: combined oxidative phosphorylation deficiency 41
Synonyms: COXPD41
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.
Ontology: Human Disease [DOID:0112119]   ( DOID:0112119 )

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