Global Variome shared LOVD

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Phenotype #0000357142 Individual ID 00472339 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; birth 38w; weight 98.4kg (SD+2.37), height 187cm (SD+1.90), OFC 61cm (SD+4.11); no gross motor delay; severe speech delay, 21m-w/regression, no speech; severe developmental delay; evere intellectual disability; epilepsy, absence, EEG normal; autism traits (ASD); behavioral issues (severe aggression, anxiety, depression); hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 4y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet Inheritance Unknown Age/Examination 17.25y 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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