Global Variome shared LOVD

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Phenotype #0000328650 Individual ID 00438752 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD56 Inheritance Isolated (sporadic) Phenotype details see paper; ..., global developmental delay, moderate intellectual disability; no seizures; MRI brain normal; hypotonia, neonatal feeding difficulties, sensorineural hearing loss Age/Examination 12y10m (12 years, 10 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 14:35:05 +02:00 (CEST) Date last edited N/A

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