Global Variome shared LOVD

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Phenotype #0000356542 Individual ID 00471733 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see papeer; ..., normal pregnancy; birth at term, weight 3300g; normal neonatal period; length P88, +1.16 SD, weight P48, -0.04 SD, OFC P99, +2.3 SD; global developmental delay; delayed speech development; normal motor development; mild intellectual disability; no developmental regression ; no microcephaly; ADHD; autism; <18m-walk; no seizures; normal coordination; normal muscle tone; bilateral epicanthus, broad nasal bridge and broad nose; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology Inheritance Unknown Age/Examination 9y3m (9 years, 3 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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