Term Name:	combined oxidative phosphorylation deficiency 2
Synonyms:	agenesis of corpus callosum with dysmorphism and fatal lactic acidosis, COXPD2
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.
Ontology:	Human Disease [DOID:0111483]   ( DOID:0111483 )