Global Variome shared LOVD

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Phenotype #0000350486 Individual ID 00464457 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRXSCH Inheritance Familial, X-linked recessive Phenotype details see paper; ..., 16m-seizures, strabismus; severely retarded psychomotor development; 7y-microcephaly (OFC 46 cm (<3rd)) Age/Examination 07y (7 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 11:31:56 +01:00 (CET) Date last edited N/A

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