Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	LIS2
Location	7q22.1
Name	lissencephaly 2
Other name(s)	lissencephaly with cerebellar hypoplasia Norman-Roberts lissencephaly syndrome
Corresponding gene	RELN
Other symbol(s)	LCH
Main clinical features	severe abnormalities of the cerebellum, hippocampus, brainstem microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency, hypertonia, hyperreflexia, seizures, and profound mental retardation, brain MRI showed changes consistent with lissencephaly type I, grade 2
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

Gene product

Name	reelin (RELN)

Remark(s)