Global Variome shared LOVD

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Phenotype #0000352969 Individual ID 00467815 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHYBA Phenotype details see paper; ..., birth-40w; no failure to thrive; feeding problems; delayed speech; delayed gross motor development, walks independently; delayed fine motor development; mild-moderate intellectual disability (IQ55); no seizures; autism; no hypotonia; temper tantrums since puberty; no eye anomalies; no hearing impairment; dysmorphic features Inheritance Isolated (sporadic) Age/Examination 16y (16 years) 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 2025-10-31 17:49:51 +01:00 (CET) Date last edited N/A

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