Global Variome shared LOVD

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Phenotype #0000352470 Individual ID 00467264 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDSJL Phenotype details see paper; ..., 24wg-ultrasound nuchal translucency thickening, cervical hygroma with lymphatic cyst, bilateral renal hypoplasia, hepatomegaly, fetal biparietal 6.55cm, OFC 23.84cm, abdominal circumference 21.31cm, estimated fetal weight 796g, femur length 4.36cm, oligohydramnios Inheritance Isolated (sporadic) 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 2025-10-09 14:50:05 +02:00 (CEST) Date last edited N/A

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