Global Variome shared LOVD

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Phenotype #0000350483 Individual ID 00464454 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRXSCH Inheritance Familial, X-linked recessive Phenotype details see paper; ..., mild intellectual disability (FSIQ=60); speech normal sentences, childhood severe speech delay; OFC 55 cm (10th); no ataxia, no motor regression; no seizures Age/Examination 40y (40 years) 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 2025-03-17 11:11:15 +01:00 (CET) Date last edited N/A

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