Global Variome shared LOVD

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Phenotype #0000347575 Individual ID 00459497 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 47th; no short stature; intellectual disability (IQ49); developmental delay, 9-10m-sit, 14m-walk, 3y-first word6y-calculating numbers up to 20, can read simple texts, cannot write, can drive mountain-E-Bike; no autistic features; no epilepsy, febrile seizure; no movement disorder; genital anomalies, partial cryptorchidism, phimosis; no cardiac anomalies; epicanthus, asymmetric, upslanting palpebral fissures, small ears, folded helix, full lower lip, retrognathia, pectus excavatum, broad thumbs, long fingers, pes valgus, 4/5 brachymetatarsalia, 2/3 syndactyly, long toes Inheritance Isolated (sporadic) Age/Examination 16.58y 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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