Global Variome shared LOVD

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Phenotype #0000356797 Individual ID 00471988 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith premature, small for gestational age; mild motor delay; mild-moderate intellectual disability (14y-tIQ48); speaks full sentences (inarticulate); autism (PDD-NOS); behavorial difficulties, easily burst out in anger, anxious personality; no seizures; 5y-EEG normal; 5y-MRI normal; knock knees (anamnestically); high anterior hairline, deeply set eyes, horizontal eyebrows, bifid nasal tip, thin upper lip and broad chin with vertical dimple; mild constipation; urinary incontinence (at night) Inheritance Familial, autosomal dominant Age/Examination 21y (21 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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