Global Variome shared LOVD

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Phenotype #0000300608 Individual ID 00408491 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite MRD66 Phenotype details see paper; ..., development delay; mild intellectual disability; autism spectrum disorder; no seizures; marfanoid habitus, aortic root dilation, pectus carinatum, scoliosis, arachnodactyly, facial dysmorphism Inheritance Unknown Age/Examination 51y (51 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 19:48:17 +02:00 (CEST)

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