Global Variome shared LOVD

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Phenotype #0000332902 Individual ID 00443597 Associated disease MKS Diagnosis/Initial Meckel syndrome Diagnosis/Definite MKS1 Phenotype details gestation 18th week; campomelic variant; occipital cerebral encephalocele, lower occipital bone keyhole defect with occult cerebellar encephalocele; renal cystic dysplasia; hepatic ductal plate malformation (intrahepatic partly cystic bile duct proliferation and periportal fibrosis); post-axial polydactyly upper limbs (left); post-axial polydactyly lower limbs (left/right); no cleft palate, lobulated tongue; epididymal cystic dysplasia; ocular coloboma (left/right); no prominent forehead, sloping forehead; ambiguous genitalia 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 2023-11-29 14:23:35 +01:00 (CET) Date last edited N/A

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