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GENATLAS PHENOTYPE

last update : 20-09-2022

Symbol	IDLSE
Location	5q33.2
Name	intellectual disability (ID), language delay, poor sleep, endocrine abnormalities
Corresponding gene	GRIA1
Main clinical features	characterized by intellectual disability (ID), speech and language delay, poor sleep, abnormal electroencephalogram (EEG) with or without seizures, normal brain imaging, and endocrine abnormalities cognitive impairment ranging from moderate to severe, possible autism spectrum disorder (ASD)
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	mental retardation
	psychiatry disorder
Type	disease

Remark(s)

. GRIA1 variants implicated in IDSLE affect residues that are positioned in critical structural domains in the GluA1 subunit protein (PMID: 35675825))