Global Variome shared LOVD

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Phenotype #0000356526 Individual ID 00471717 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., normal pregnancy; birth 40w; neonatal CPAP <24h, SCN for IVAB (maternal GBS+, suspected sepsis), feeding difficulties, poor weight gain; birth weight 2830g (P4, -1.8 SD); length 109.8cm (<P3), weight 15.4kg (<P3), OFC 48.3cm (<P2); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; secondary; ADHD; no autism; 14m-walk; social smile on time; 2y-first words; no seizure; -; fine motor delay; triangular facial features; normal cranial morphology; gastrointestinal abnormalities, feeding difficulties; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology; one pigmented macule on back Inheritance Isolated (sporadic) Age/Examination 6y (6 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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