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DO Term : combined oxidative phosphorylation deficiency 31 [DOID:0111488] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • COXPD31,
  • lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,
  • OMIM:617228,
  • ORDO:478049,
  • 617228
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