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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:0000505 | Visual impairment |
| HP:0000519 | Developmental cataract |
| HP:0000559 | Corneal scarring |
| HP:0000718 | Aggressive behavior |
| HP:0001225 | Wrist swelling |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001482 | Subcutaneous nodule |
| HP:0001994 | Renal Fanconi syndrome |
