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combined oxidative phosphorylation deficiency 57
Summary
- Synonym
-
- COXPD57
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12.
- Super Class
- autosomal recessive disease combined oxidative phosphorylation deficiency
External Links
- Disease Ontology
- DOID:0070430
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000873 | Diabetes insipidus |
| HP:0011664 | Left ventricular noncompaction cardiomyopathy |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0200134 | Epileptic encephalopathy |
| HP:0002059 | Cerebral atrophy |
| HP:0001332 | Dystonia |
| HP:0007663 | Reduced visual acuity |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002104 | Apnea |
| HP:0000639 | Nystagmus |
