Lowe syndrome

Also known as: Oculocerebrorenal syndrome of Lowe

X-linked disorder with congenital cataracts, intellectual disability and renal Fanconi syndrome.

Medical specialty: Nephrology
Subspecialty: Nephrology / Tubular disorders
Sex & age distribution: Male: affected; Female: carriers lens opacities; Children: yes, birth
Gene(s) involved: OCRL

Etiology & mechanism

OCRL deficiency affects phosphatidylinositol metabolism.

Gene(s) involved (1)

OCRL

Symptoms & signs (8)

aminoaciduriacongenital cataractsglaucomahypotoniaintellectual disabilityrenal tubular acidosisricketsshort stature

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