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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:0002020 | Gastroesophageal reflux |
| HP:0002024 | Malabsorption |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0002093 | Respiratory insufficiency |
| HP:0002119 | Ventriculomegaly |
| HP:0002148 | Hypophosphatemia |
| HP:0002150 | Hypercalciuria |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0002169 | Clonus |
| HP:0002205 | Recurrent respiratory infections |
