5C60.0Ангилал

Oculocerebrorenal syndrome

Тодорхойлолт

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.

Индексийн нэр томьёо Index terms · 11

Oculocerebrorenal syndromePhosphatidylinositol 4,5-biphosphate 5-phosphatase deficiencyLowe oculocerebrorenal syndromeLowe syndromeLowe diseaseOculocerebrorenal dystrophyCerebro-oculorenal dystrophyOCRL1 - [Oculocerebrorenal syndrome]Lowe-Terrey-Maclachlan syndromerenal-oculocerebrodystrophyGlaucoma in Lowe syndrome

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