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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:0000411 | Protruding ear |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000501 | Glaucoma |
| HP:0000518 | Cataract |
| HP:0000557 | Buphthalmos |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000615 | Abnormal pupil morphology |
| HP:0000632 | Lacrimation abnormality |
