Global Variome shared LOVD

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Phenotype #0000346984 Individual ID 00458553 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHBA Phenotype details see paper; ..., pregnancy unremarkable, birth-39w, weight 4.95kg (99th); height 162cm (12th), weight 60kg (52nd), OFC 57cm (91st); severe global developmental delay, profound intellectual disability (IQ<20); no developmental regression; 10y-walk, self-feeding, can not hold light things; delayed speech, babbling; vision disturbed at night, no hearing loss; dysmorphic features, Marfanoid and elongated face, disordered teeth, low subcutaneous fat, scarring skin; central tone mild hypotonia; peripheral tone moderate hypotonia; no muscle atrophy; normal plantar response; no seizures; mute; MRI 1.6y-bilateral incomplete hippocampal rotation Inheritance Familial, autosomal recessive 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 2024-12-18 16:32:47 +01:00 (CET) Date last edited N/A

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