Phenotype #0000351152

Individual ID	00465609
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRXSHG
Inheritance	Familial, X-linked recessive
Phenotype details	see paper; ..., intellectual disability; 2y-seizures; nocturnal wakening, difficulty sleeping thereafter; MRI brain normal; EEG sleep continuous spike-and-slow-waves; speech multiple words, complete loss of speech with seizure onset, 8y-no speech; attention problems; hyperactivity; psychomotor delay; 27m-walk
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-05-27 17:46:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD