Global Variome shared LOVD

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Phenotype #0000306934 Individual ID 00415133 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DEDBANP Phenotype details birth weight 4,100g (90th), length 51cm (75th), OFC 36.5cm (75th); 9m-sit; 16m-walk; 36m-first words; developmental delay; mild/moderate intellectual disability; no autism spectrum disorder; no attention-deficit hyperactivity disorder; no hypotonia; no stereotypies; no epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; macrocephaly (97th centile); no overweight; no joint hypermobility; learning disabilities Inheritance Isolated (sporadic) Age/Examination 08y (8 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 2022-08-08 15:58:51 +02:00 (CEST) Date last edited 2024-12-10 18:58:36 +01:00 (CET)

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