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GENATLAS PHENOTYPE

last update : 05-06-2024

Symbol	DEE108
Location	19p13.11
Name	developmental and epileptic encephalopathy 108
Corresponding gene	MAST3
Main clinical features	often normal early development before the onset of seizures, in the first 2 years of life, and after which developmental regression with loss of skills, particularly language; most are nonverbal or speak only a few words also mildly delayed walking, unsteady gait, hypotonia, and behavioral abnormalities, such as ADHD or autism
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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