Global Variome shared LOVD

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

Phenotype #0000015402 Individual ID 00017038 Associated disease NPHP1 Phenotype details prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination ? Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-06-14 12:57:22 +02:00 (CEST) Date last edited 2016-06-19 20:44:55 +02:00 (CEST)

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