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GENATLAS PHENOTYPE

last update : 20-09-2022

Symbol	NEDSGA
Location	11q22.3
Name	neurodevelopmental disorder with or without seizures and gait abnormalities
Corresponding gene	GRIA4
Main clinical features	global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability, from profound with absent speech to mild with an ability to attend special schools most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later some patients may develop seizures of variable severity early in life
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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