Global Variome shared LOVD

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Phenotype #0000355461 Individual ID 00470312 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no feeding difficulties; no muscular hypotonia; mild intellectual disability; autism spectrum disorder, anxiety; retrocerebellar cyst; no eye anomalies; no congenital heart disease; delayed motor development, attention-deficit/hyperactivity disorder Inheritance Isolated (sporadic) Age/Examination - 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 2025-11-30 13:31:50 +01:00 (CET) Date last edited N/A

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