Global Variome shared LOVD

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Phenotype #0000352671 Individual ID 00467464 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., 18wg-termination pregnancy; ventriculomegaly; no cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; micrognathia and/or retrognathia; cortical dysplasia, hippocampal winding defect, fetal immobility, malposition extremities, fetal hydrops 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 2025-10-13 13:28:22 +02:00 (CEST) Date last edited N/A

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