Term Name: combined oxidative phosphorylation deficiency 57
Synonyms: COXPD57
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
Ontology: Human Disease [DOID:0070430]   ( DOID:0070430 )

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