Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 30-01-2019

Symbol	IDSDBA
Location	12q13.2
Name	intellectual disability, with significant speech delay, and behavioral abnormalities
Corresponding gene	SMARCC2
Main clinical features	abnormal brain MRI findings including small corpus callosum and generalized cerebral atrophy, moderate to profound developmental delay speech impairment with any cases completely lacking language significant hypotonia, or spasticity; behavioral problems including aggression and self-injurious behavior as well as hyperactivity, hypersensitivity to touch, sleep disturbances, and obsessive and rigid behavior absence of hand abnormalities
Genetic determination	not applicable
Function/system disorder	mental retardation
	psychiatry disorder
Type	disease

Remark(s)

mutations of SMARCC2 may regulate pathways important for postnatal gliogenesis, differentiation, and function of astrocytes and oligodendrocytes (PMID: 30580808))