| Metadata | |
|---|---|
| ID | DOID:0111488 |
| Name | combined oxidative phosphorylation deficiency 31 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD31 [EXACT] lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome [EXACT] |
| Parent Relationships |