Human genes for oculocerebrorenal syndrome
Oculocerebrorenal syndrome [DOID:1056]
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.
Synonyms: oculocerebrorenal syndrome, DOID:1056, oculocerebrorenal disease, oculocerebrorenal disorder, oculocerebrorenal syndromes ...
Linkouts: OMIM