Global Variome shared LOVD

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Phenotype #0000236666 Individual ID 00311419 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Phenotype details see paper; ..., (growth parameters); intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); no seizures; 3 pre-auricular tags (HP:0000384) on right side; no skeletal anomalies; normal connective tissue; behavioral problems Inheritance Isolated (sporadic) Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-24 19:42:42 +02:00 (CEST) Date last edited 2025-03-06 17:38:08 +01:00 (CET)

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