Global Variome shared LOVD

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Phenotype #0000332846 Individual ID 00443512 Associated disease MKS Diagnosis/Initial Meckel syndrome Diagnosis/Definite MKS5 Phenotype details see paper; ..., 15wg-anencephaly phenotype, occipital encephalocele, cystic kidney dysplasia, bile duct proliferation, postaxial polydactyly (upper limbs, lower limbs), cleft lip, cleft palate, microphthalmia, long bones bowing Inheritance Familial, autosomal recessive Age/Examination <00y00m00d (before ) 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 15:59:46 +01:00 (CET) Date last edited N/A

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