Global Variome shared LOVD

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Phenotype #0000356531 Individual ID 00471722 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth restriction; birth 36+3w (induced delivery due to the intrauterine growth restriction); neonatal feeding difficulties/poor feeding; birth length 41.5cm (P1, -2.3 SD), weight 1590g (<P1, -3.1 SD), OFC 29.5cm (P2, -2.0 SD); length 89cm (-2.5/-3 SD), weight 9.9kg (-3.5 SD), OFC 46.5cm (<P1, -2.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; secondary; normal behavior; no autism; 10m-sit; 31m-walk; no seizure; MRI brain normal; normal coordination; normal muscle tone; protruding metopic suture, upslanted palpabral fissures, bilateral epicanthus, thin lower lip; trigonocephalic aspect; severe feeding difficulties, poor weight gain; no hearing loss; strabism; no nystagmus; normal cardiovascular system; normal spine morphology; delayed temporary teeth eruption shoulder dimples Inheritance Isolated (sporadic) Age/Examination 3y10m (3 years, 10 months) 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 2026-01-03 11:36:42 +01:00 (CET) Date last edited N/A

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