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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
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0006297 | Enamel hypoplasia |
| HP:0007109 | Periventricular cysts |
| HP:0007663 | Reduced visual acuity |
| HP:0007948 | Dense posterior cortical cataract |
| HP:0008897 | Postnatal growth retardation |
| HP:0009473 | Joint contracture of the hand |
| HP:0010562 | Keloids |
| HP:0100490 | Camptodactyly of finger |
