Global Variome shared LOVD

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Phenotype #0000346429 Individual ID 00457979 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite XLID114 Inheritance Familial, X-linked Phenotype details see paper; ..., global developmental delay; learning difficulties (IQ unknown); no dysmorphic features; ataxia, proximal muscle weakness; abnormal smooth pursuit in eye movement; no hearing impairment; mild muscle weakness; MRI brain loss of volume within posterior body corpus callosum Age/Examination 15y (15 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 2024-11-23 20:27:43 +01:00 (CET) Date last edited N/A

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