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oculocerebrorenal syndrome
Summary
- Synonym
-
- Lowe syndrome
- lowe oculocerebrorenal syndrome
- oculocerebrorenal syndrome of Lowe
- Definition
- A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
- Super Class
- X-linked recessive disease syndrome
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0000987 | Atypical scarring of skin |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001284 | Areflexia |
| HP:0001319 | Neonatal hypotonia |
| HP:0001369 | Arthritis |
| HP:0001382 | Joint hypermobility |
| HP:0001386 | Joint swelling |
| HP:0001387 | Joint stiffness |
