Term Name:	combined oxidative phosphorylation deficiency 31
Synonyms:	COXPD31, lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Definition:	A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12.
Ontology:	Human Disease [DOID:0111488]   ( DOID:0111488 )