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

• OMIM:617228
• ORDO:478049

Ontology

Human Disease   ( DOID:0111488 )