Global Variome shared LOVD

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Phenotype #0000332861 Individual ID 00443527 Associated disease MKS Diagnosis/Initial Meckel syndrome Diagnosis/Definite MKS3 Phenotype details see paper; ..., occipital encephalocele; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-28 20:10:19 +01:00 (CET) Date last edited 2023-11-28 20:11:34 +01:00 (CET)

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