Global Variome shared LOVD

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

Phenotype #0000236397 Individual ID 00311142 Associated disease CAKUT Phenotype details renal ultrasound normal; bilateral epicanthus, abnormal palmar crease; speech delay Diagnosis/Initial CAKUT Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-19 17:29:02 +02:00 (CEST) Date last edited N/A

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