Global Variome shared LOVD

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Phenotype #0000347574 Individual ID 00459496 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 88th; no short stature; intellectual disability; global developmental delay, 2y-walk, 10y-no speech; autistic features; no epilepsy; no movement disorder; genital anomalies, micropenis; no cardiac anomalies; upslanting palpebral fissure, high forehead; hypotonia Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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