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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:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001537 | Umbilical hernia |
| HP:0001608 | Abnormality of the voice |
| HP:0001873 | Thrombocytopenia |
| HP:0001903 | Anemia |
| HP:0001944 | Dehydration |
| HP:0002002 | Deep philtrum |
| HP:0002007 | Frontal bossing |
| HP:0002019 | Constipation |
