Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 04-06-2024

Symbol	MRD8
Location	9q34.3
Name	mental retardation, autosomal dominant 8
Other name(s)	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Corresponding gene	GRIN1
Other symbol(s)	NDHMSD
Main clinical features	moderate to severe mental retardation, partial complex seizures, hypotonia, and normal brain MRI nonsyndromic intellectual disability and epileptic encephalopathy also severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder; also cortical blindness, generalized cerebral atrophy, and seizures
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)