Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 17-09-2024

Symbol	DEE114
Location	20q11.23
Name	developmental and epileptic encephalopathy 114
Corresponding gene	SLC32A1
Main clinical features	moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder global developmental delay and moderately to severely impaired intellectual development
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)