Global Variome shared LOVD

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Phenotype #0000170839 Individual ID 00225728 Associated disease MKS Diagnosis/Initial Meckel-Gruber syndrome Diagnosis/Definite MKS-6 Phenotype details fetus 21w; cystic kidneys characteristic of Meckel syndrome; hepatic fibrosis, bile duct proliferation liver; occipital meningocele, Dandy-Walker; no polydactily; left heart hypoplasia, femoral bowing Inheritance Familial, autosomal recessive Age/Examination <0d 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 2019-02-23 21:23:16 +01:00 (CET) Date last edited N/A

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