Global Variome shared LOVD

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Phenotype #0000326309 Individual ID 00436125 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., L5 hemivertebra, scoliosis; hypoplastic left heart; absent left kidney, multicystic right kidney; abnormal hand (right hand 4-5 syndactyly, abnormal orientation of the hand, flexion contracture of the 3rd digit); small bladder Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-11 14:32:22 +02:00 (CEST) Date last edited N/A

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