Global Variome shared LOVD

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Phenotype #0000356529 Individual ID 00471720 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth restriction; birth 37+2w; neonatal feeding difficulties with need for enteral nutrition; birth length 45.5cm (P40, -0.2 SD), weight 1900g (P6, -1.6 SD), OFC 32cm (P25, -0.7 SD); length 117cm (<P1, -3.6 SD), weight 17kg (<P1, -5.5 SD), 7y-OFC 49cm (<P1, -2.7 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; primary microcephaly; ADHD; no autism; 12m-sit; 18m-walk; 20m-first words; no seizure; MRI brain normal; normal coordination; normal muscle tone; bilateral epicanthus; normal cranial morphology; feeding difficulties; no hearing loss; hypermetropia +2,5; no nystagmus; normal cardiovascular system; cryptorchidism; normal spine morphology 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 2026-01-03 11:36:42 +01:00 (CET) Date last edited N/A

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