Global Variome shared LOVD

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Phenotype #0000357145 Individual ID 00472342 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; birth 40w; weight 18kg (SD+0.67), height 112cm (SD+2.31); no gross motor delay; moderate speech delay, 12m-w/regression, 3y-started speaking words again; moderate developmental delay; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; 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 4.17y 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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