Global Variome shared LOVD

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

Phenotype #0000332841 Individual ID 00443507 Associated disease MKS Diagnosis/Initial Meckel syndrome Diagnosis/Definite MKS6 Phenotype details occipital encephalocele; anencephaly; large cystic kidneys; fibrotic/cystic liver changes; polydactyly hands; polydactyly feet 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 2023-11-28 15:34:01 +01:00 (CET) Date last edited N/A

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