Global Variome shared LOVD

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Phenotype #0000347576 Individual ID 00459498 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 95th; no short stature; no intellectual disability; developmental delay, mild delay motor development; no speech delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; round face, light hair color, mild hypertelorism, wide nose, anteverted nares, lLong filtrum, small chin; normally placed ears, modulated but rotated backwards,nd have a pointed shape with large; neck ck shows excess s; trunk s rather wid; on shows left postaxial appendage (withoupper limb, bilateral on shows postaxial po lower limblaterally Inheritance Isolated (sporadic) Age/Examination 0.63y 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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