Global Variome shared LOVD

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Phenotype #0000352887 Individual ID 00467735 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., mild developmental delay; 17m-walk; after 2y-first words; speech 20-30 words, expressive and receptive speech delay, non-verbal cognitive development within lower normal range; no autism spectrum disorder; sometimes stubborn, still not toilet trained; no seizures; sparse scalp hair, broad forehead, triangular face, epicanthus, sparse eyebrows, widly spaced eyes, short nasal bridge, broad nasal tip, midface retrusion, deep and short philtrum, teneted upper vermilion, retrognathia, low-set ears, pectus excavatum; broad distal phalange, broad foot, sandal gap; postnatal growth retardation, 2y delayed bone age; atrial septum defect, strabismus, hyperopia Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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