Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 11-12-2019

Symbol	LIS7
Location	7q36.1
Name	Lissencephaly 7 with cerebellar hypoplasia
Corresponding gene	CDK5
Main clinical features	severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy at birth, small head size, short forehead, low hairline, full cheeks, downslanting corners of the mouth, micrognathia, hirsutism, lymphedema, arthrogryposis multiplex, and clenched hands
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)