ZFIN Human Disease: combined oxidative phosphorylation deficiency 31

OBO ID: DOID:0111488

Term Name:	combined oxidative phosphorylation deficiency 31		Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/27799064
References:	OMIM:617228 ORDO:478049
Ontology:	Human Disease ( DOID:0111488 )

Relationships

is a type of:	autosomal recessive disease combined oxidative phosphorylation deficiency autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

OTHER combined oxidative phosphorylation deficiency 31 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MIPEP	mipepb mipepa	Combined oxidative phosphorylation deficiency 31	617228

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None