DISEASES

Disease-gene associations mined from literature

Human genes for oculocerebrorenal syndrome

Oculocerebrorenal syndrome [DOID:1056]

Oculocerebrorenal syndrome (also called Lowe syndrome) is an X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

Synonyms:  oculocerebrorenal syndrome,  DOID:1056,  oculocerebrorenal disease,  oculocerebrorenal disorder,  LOWE OCULOCEREBRORENAL SYNDROME ...