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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:0001790 | Nonimmune hydrops fetalis |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0001252 | Hypotonia |
| HP:0005484 | Secondary microcephaly |
| HP:0000710 | Hyperorality |
| HP:0002376 | Developmental regression |
| HP:0009806 | Nephrogenic diabetes insipidus |
| HP:0001518 | Small for gestational age |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003623 | Neonatal onset |
