Home Page

Orphanet

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 31/08/2006

Symbol	EMX2
Location	10q26.1
Name	schizencephaly, severe
Corresponding gene	EMX2
Other symbol(s)	HMX2
Main clinical features	brain malformation characterized by infolding of cortical gray matter along a hemispheric cleft near the primary cerebral fissures : . type I : schizencephaly consists of a fused cleft, forming a furrow in the developing brain, and lined by polymicrogyric gray matter, associated to seizures and spasticity . type II : schizencephaly, consisting in a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter, usually associated to mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	neurology
Type	disease

Gene product

Name	homeo box encoding gene (EMX2)