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Oculocerebrorenal syndrome
rareOculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
- Identifiers
- MONDO:0010645 OMIM:309000Orphanet:534
- Causal genes
- OCRL
- Part of
- Eye disorderInborn disorder of amino acid transportInherited renal tubular diseaseSyndromic disease
- Also known as
- Lowe disease · Lowe oculo-cerebro-renal syndrome · Lowe oculocerebrorenal syndrome · Lowe syndrome · Lowe syndrome, X-linked recessive
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