Global Variome shared LOVD

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Phenotype #0000310024 Individual ID 00418729 Associated disease MKS Diagnosis/Initial - Diagnosis/Definite Meckel-Gruber syndrome Phenotype details gestation weeks: 18+0; 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 anot determined periportal fibrosis): +; post-axial polydactyly of upper (left/right) limbs: +/+, lower (left/right) limbs: +/+; cleft palate/lobulated tongue: -/-; epididymal cystic dysplasia: F; ocular coloboma (left/right): +/-; dysmorphic facies with prominent/sloping forehead: -/+; other: - Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-10-04 23:24:52 +02:00 (CEST) Date last edited N/A

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