Phenotype #0000351154

Individual ID 00465611
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRXSHG
Inheritance Familial, X-linked recessive
Phenotype details see paper; ..., intellectual disability; 8d-seizures; 7m-frequent nocturnal wakening; MRI brain nonspecific periventricular white matter hyperintensity; 12y-EEG sleep no continuous spike-and-slow-waves; 12y-speech single words; attention problems; hyperactivity; psychomotor delay; 24m-walk
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-05-27 17:46:55 +02:00 (CEST)
Date last edited N/A

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