Global Variome shared LOVD

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Phenotype #0000300603 Individual ID 00408486 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite MRD66 Phenotype details see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; seizures; marfanoid habitus, arachnodactyly, scoliosis, hypermobile thumb Inheritance Isolated (sporadic) Age/Examination 17y (17 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 2022-04-21 21:44:36 +02:00 (CEST) Date last edited 2025-08-29 19:45:41 +02:00 (CEST)

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