Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 17-09-2024

Symbol	DEE109
Location	19p13.3
Name	developmental and epileptic encephalopathy 109
Corresponding gene	FZR1
Main clinical features	onset of various types of seizures in the first months or years of life with frequent microcephaly affected individuals show developmental delay before and concurrent with the onset of seizures, assocaited with impaired intellectual development with poor speech, ataxic gait, coordination problems, and behavioral abnormalities
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Remark(s)