Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000222579 Individual ID 00288883 Associated disease NPHP1 Phenotype details Failure to thrive, chronic anaemia, ESRD 1 Y. Renal biopsy: cystic dilation of tubules, glomerulosclerosis and advanced interstitial scarring. Liver biopsy: bile duct proliferation, and hepatic fibrosis. Renal USS: increased echogenicity with loss of corticomedullary differentiation and cortical cysts noted in left kidney Diagnosis/Initial NPHP Inheritance Familial, autosomal recessive Diagnosis/Definite Nephronophthisis 3 Age/Examination - Age/Diagnosis 01y Age/Onset - Phenotype/Onset - Protein - Owner name Intisar Al Alawi Database submission license No license selected Created by Intisar Al Alawi Date created 2020-02-24 10:33:19 +01:00 (CET) Date last edited 2020-02-26 09:06:08 +01:00 (CET)

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