Gene: [0Xq2/DCX] doublecortin; subcortical laminar heterotopia and lissencephaly syndrome (MIM:300067); [SCLH LISX ]

PAT

X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment."

REF

CLO,SEQ,LOC,MUT "des Portes V &: Cell, 92, N1, 51-61, 1998
LOC,MUT "des Portes V &: J Med Genet, 34, N3, 177-183, 1997
CLO,SEQ,LOC,MUT "Gleeson JG &: Cell, 92, N1, 63-72, 1998

CLA

coding, basic

LOC

0X q22.3-23

MIM

MIM: 300121

SYN

SCLH LISX