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Human Disease

combined oxidative phosphorylation deficiency 31

Term ID
DOID:0111488
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
Ontology
Human Disease   ( DOID:0111488 )
Relationships
is a type of
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Genes Involved
Zebrafish Models