Global Variome shared LOVD

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Phenotype #0000357140 Individual ID 00472337 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; birth 39w; weight 12.3kg (SD-0.30), height 89.8cm (SD+0.73), OFC 49.5cm (SD+0.60); moderate gross motor delay; severe speech delay, 2y-no words; severe developmental delay; 2y-epilepsy, absence, EEG abnormal; hypotonia, gait instability; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 2y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; epicanthus, deep set eyes; normal nose; normal mouth; normal hands/feet Inheritance Isolated (sporadic) Age/Examination 2.7y 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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