Global Variome shared LOVD

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Phenotype #0000346988 Individual ID 00458557 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHBA Phenotype details see paper; ..., birth at term, weight 2.5kg (below the 5th), OFC 34cm (50th); height 48cm, weight 9kg (0.1th), OFC 44cm (0.1th); failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; roll, not walking; delayed speech, babbling; normal vision, no hearing loss; dysmorphic features, prognathism, deep set eyes, high arch palate; central tone hypotonia; peripheral tone mild-moderate hypotonia; brisk deep tendon reflexes; equivocal plantar response; no seizures; bruxism, limb dystonic athetosis; selective diet, only cereals; poor communication, poor eye contact, agitation Inheritance Familial, autosomal recessive Age/Examination 4y (4 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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