Gene: [0Xq2/DCX] doublecortin; subcortical laminar heterotopia and lissencephaly syndrome (MIM:300067); [SCLH LISX ]
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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." |
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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 |
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CLA |
coding, basic |
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LOC |
0X q22.3-23 |
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MIM |
MIM: 300121 |
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SYN |
SCLH LISX |
