Global Variome shared LOVD

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Phenotype #0000306933 Individual ID 00415132 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite DEDBANP Phenotype details birth weight 4,470g (>97th), length 57cm (>97th); 7m-sit; 30m-walk; 36m-first words; developmental delay; no intellectual disability (IQ 109); autism spectrum disorder; no attention-deficit hyperactivity disorder; hypotonia; stereotypies; epilepsy; no sleep disturbance; MRI brain normal; facial dysmorphism; no overweight; joint hypermobility; dermatological issues, scoliosis Inheritance Isolated (sporadic) Age/Examination 10y (10 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 18:58:47 +01:00 (CET)

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