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GENATLAS PHENOTYPE

last update : 13-11-2024

Symbol	IDEMS
Location	5q31.3
Name	intellectual disability, epilepsy, and musculoskeletal abnormalities
Corresponding gene	HDAC3
Main clinical features	delayed speech and language development, delayed motor development, with autistic features, and epilepsy, and facial dysmorphism in any cases, skeletal anomalis, epilepsy, genito-urinary abnormalities
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

missense variants implying that key mechanisms may involve not only changes in the catalytic function of HDAC3 but also altered interactions with multi-protein complexes, and HDAC3 variants not only impair deacetylase function but also disrupt interactions with the CoREST and NCoR complexes, leading to protein mislocalization in a variant-specific manner (PMID: 39047730))