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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:0000639 | Nystagmus |
| HP:0000646 | Amblyopia |
| HP:0000670 | Carious teeth |
| HP:0000678 | Dental crowding |
| HP:0000679 | Taurodontia |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000704 | Periodontitis |
| HP:0000716 | Depression |
| HP:0000722 | Compulsive behaviors |
