Oculocerebrorenal Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.

**Synonyms:** - Lowe Syndrome