Lowe's syndrome is characterised by the following except-
Ans. is 'b' i.e., Undescendended testes Lowe's syndrome It is also known as oculocerebrorenal syndrome of Lowe. o It is X-linked disorder. It is characterized by : i) Congenital cataract ii) Mental retardation iii) Fanconi syndrome --> Aminoacidurina o The disease is caused by mutation in the OCRL1 gene, which encodes the phosphatidylinosital polyphosphate 5-phasphatase. Clinical features Progressive growth failure Hypotonia Fanconi syndrome Significant proteinuria Blindness Renal infufficiency Behavioural problems
Hypophosphatamic rickets
Undescended testes
Defect in the CNS and eyes
Aminoaciduria