Global Variome shared LOVD

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Phenotype #0000354893 Individual ID 00469741 Associated disease NTD Phenotype details see paper; ..., ulcerated lumbar hemimyelomeningocele, diastematomyelia, triventricular hydrocephalus, Chiari II malformation, moderate transmissive deafness Diagnosis/Initial neural tube defect Inheritance Unknown Diagnosis/Definite NTD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-19 18:41:36 +01:00 (CET) Date last edited N/A

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