Global Variome shared LOVD

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Phenotype #0000351400 Individual ID 00466015 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retardation, kidney malformation, polyvalvular dysplasia; birth-35w, 1,780g, 41cm, 30cm; height -3.3 SD, weight -2.5 SD, OFC -3.6 SD; severe developmental delay; 4y-walk with support; speech vocalization; hypertonia, dystonia; anxiety, autistic features; 1y6m-seizures; MRI brain 5y-small frontal lobes, abnormal gyration, thick corpus callosum; horseshoe kidney; polyvalvular dysplasia, ventricular septal defect; hypermetropia, strabismus; scrotal hypoplasia, cryptorchidism Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) 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 2025-07-07 15:05:37 +02:00 (CEST) Date last edited N/A

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