Global Variome shared LOVD

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

Phenotype #0000236394 Individual ID 00311139 Associated disease CAKUT Phenotype details mild hypospadias, distal chordee and dorsal hooding; aplasia cutis; acute lymphoblastic leukemia; developmental delay, autism spectrum disorder (mother has attention deficit hyperactivity disorder and learning disability) Diagnosis/Initial CAKUT Inheritance Familial, autosomal dominant 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 2020-09-19 20:51:51 +02:00 (CEST)

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