Phenotype #0000351158

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465615
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	MRXSHG
Inheritance	Familial, X-linked recessive
Phenotype details	see paper; ..., intellectual disability; neonatal onset seizures; 2y-speech multiple words, subsequent loss, 62y-no speech; attention problems; hyperactivity in childhood, now calm; psychomotor delay; 18m-walk
Age/Examination	62y (62 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

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