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combined oxidative phosphorylation deficiency 13
Summary
- Synonym
-
- COXPD13
- Definition
- A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0111467
- Mondo Disease Ontology
- OMIM
