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 MIPEP on chromosome 13q12.12. https://www.ncbi.nlm.nih.gov/pubmed/27799064
References:
Ontology: Human Disease   (DOID:0111488)
OTHER combined oxidative phosphorylation deficiency 31 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MIPEP Combined oxidative phosphorylation deficiency 31 617228
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None