Global Variome shared LOVD

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Phenotype #0000357135 Individual ID 00472332 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; ..., weight 14.2kg (SD+0.63), height 89.8cm (SD-0.36),; mild gross motor delay; mild speech delay; mild developmental delay; mild intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (sensory defensiveness, irritability); mild hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues, feeding tube; 2y-MRI brain, extensive posterior predominant abnormal WM signal; constipation, gastrointestinal reflux ad insfant; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet; asthma, pain intolerance Inheritance Unknown Age/Examination 2.75y 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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