Global Variome shared LOVD

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Phenotype #0000346985 Individual ID 00458554 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHBA Phenotype details see paper; ..., pregnancy unremarkable, birth-39w, weight 3.5kg (80th); height 182cm (78th), weight 62kg (20th), OFC 55cm (below 3rd); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 2y-walk, self-feeding, can not hold light things; wide base gait; delayed speech, babbling; normal vision, no hearing loss; Marfanoid and elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; mute Inheritance Familial, autosomal recessive Age/Examination 33y (33 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 2024-12-18 16:32:47 +01:00 (CET) Date last edited N/A

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