Catalog
Oculocerebrorenal syndrome
Link to WHO Definition
Oculocerebrorenal syndrome – http://id.who.int/icd/entity/1392767390
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterised by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Parents
- LD2F.1 Syndromes with multiple structural anomalies, not of environmental origin
- Congenital Glaucoma associated with systemic disorders
- 5C60 Disorders of amino acid absorption or transport
- Fanconi syndrome associated with familial or genetic disorders elsewhere classified
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature