Disease

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.
Synonyms
  • COXPD31
  • lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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