Global Variome shared LOVD

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Phenotype #0000328647 Individual ID 00438749 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD56 Inheritance Isolated (sporadic) Phenotype details see paper; ..., mild global developmental delay, mild intellectual disability; no seizures; MRI brain normal; neonatal-onset hypotonia, congenital ptosis, poor social skills Age/Examination 10y07m (10 years, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-23 14:16:59 +02:00 (CEST) Date last edited 2023-10-23 14:19:56 +02:00 (CEST)

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