Global Variome shared LOVD

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Phenotype #0000357147 Individual ID 00472344 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., birth respiratory difficulty; weight 87.2kg (SD+2.03), height 177cm (SD+0.85), OFC 59cm (SD+2.74); 10m-epilepsy unknown type, EEGG abnormal; autism traits (PDD); behavioral issues (ADD/ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; scoliosis; macrocephaly; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet Inheritance Unknown Age/Examination 15.75y 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 2026-02-03 11:21:20 +01:00 (CET) Date last edited N/A

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