combined oxidative phosphorylation deficiency 31 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 31 (DOID:0111488)
Alliance: disease page
Synonyms: COXPD31; lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Alt IDs: OMIM:617228, ORDO:478049
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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