Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 02-11-2022

Symbol	EIEE93
Location	15q13.3
Name	epileptic encephalopathy, early infantile, 93
Other name(s)	neurodevelopmental disorder with hypotonia and seizures
Corresponding gene	OTUD7A
Other symbol(s)	NEDHS
Main clinical features	epileptic encephalopathy, profound intellectual disability, and severe muscular hypotonia hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

biallelic loss-of-function variants in OTUD7A (PMID: 33381703))