Lowe syndrome

oc·u·lo·cer·e·bro·re·nal syn·drome

[MIM*309000] a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq. Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome

Lowe syndrome

Oculocerebrorenal syndrome, see there.

Lowe syndrome

(lō) [Charles U. Lowe, U.S. pediatrician, b. 1921] Oculocerebrorenal dystrophy characterized by hypotonia, loss of reflexes, mental deterioration, glaucoma, cataracts, and renal tubular dysfunction. The syndrome is transmitted as a sex-linked recessive.

Lowe,

Charles U., U.S. pediatrician, 1921–. Lowe syndrome - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndromeLowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome

单词	lowe syndrome
释义	DictionarySeesyndrome Lowe syndrome oc·u·lo·cer·e·bro·re·nal syn·drome [MIM309000] a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq. Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome Lowe syndrome Oculocerebrorenal syndrome, see there. Lowe syndrome (lō) [Charles U. Lowe, U.S. pediatrician, b. 1921] Oculocerebrorenal dystrophy characterized by hypotonia, loss of reflexes, mental deterioration, glaucoma, cataracts, and renal tubular dysfunction. The syndrome is transmitted as a sex-linked recessive. Lowe, Charles U., U.S. pediatrician, 1921–. Lowe syndrome* - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndromeLowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome
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