Global Variome shared LOVD

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Phenotype #0000343491 Individual ID 00454884 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; 2y8m-walk; no speech; intellectual disability, severe; behavioral issues; Challenging behaviour (biting hands and throwing objects), known to CAMHS Learning Disability service; no hypotonia; no seizures (2 febrile convulsions at age 3 years, nil recurrence since); MRI brain abnormal, 14m-lightly enlarged ventricles, otherwise normal Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

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