Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)

Descriptor ID	D054221
MeSH Number(s)	C10.500.507.249.230 C10.500.507.750.230 C16.131.666.507.186.230 C16.131.666.507.812.230 C16.320.322.500.186
Concept/Terms	Classical Lissencephalies and Subcortical Band Heterotopias Classical Lissencephalies and Subcortical Band Heterotopias Lissencephaly-Subcortical Band Heterotopia Band Heterotopia, Lissencephaly-Subcortical Heterotopia, Lissencephaly-Subcortical Band Heterotopias, Lissencephaly-Subcortical Band Lissencephaly Subcortical Band Heterotopia Lissencephaly-Subcortical Band Heterotopias Agyria-Pachygyria-Band Spectrum Agyria Pachygyria Band Spectrum X-Linked Lissencephaly X-Linked Lissencephaly Lissencephalies, X-Linked X Linked Lissencephaly X-Linked Lissencephalies Lissencephaly, X-Linked, 1 Lissencephaly, X-Linked Lissencephaly, X Linked Lissencephaly Syndrome, Miller-Dieker Lissencephaly Syndrome, Miller-Dieker Lissencephaly Syndrome, Miller Dieker Syndrome, Miller-Dieker Lissencephaly Miller-Dieker Syndrome Miller Dieker Syndrome Syndrome, Miller-Dieker Miller-Dieker Lissencephaly Syndrome Miller Dieker Lissencephaly Syndrome Chromosome 17p13.3 Deletion Syndrome Lissencephaly, Miller-Dieker Lissencephaly, Miller Dieker Miller-Dieker Lissencephaly Isolated Lissencephaly Sequence Isolated Lissencephaly Sequence Lissencephaly Sequence, Isolated Lissencephalies, Classical Lissencephalies, Classical Classical Lissencephalies Classical Lissencephaly Lissencephaly, Classical Type 1 Lissencephaly Lissencephaly, Type 1 Lissencephalies, Type 1 Type 1 Lissencephalies Lissencephaly 1 Lissencephaly, Classic Subcortical Band Heterotopia Subcortical Band Heterotopia Heterotopias, Subcortical Band Subcortical Band Heterotopias Heterotopia, Subcortical Band Subcortical Laminar Heterotopia Heterotopia, Subcortical Laminar Heterotopias, Subcortical Laminar Double Cortex Syndrome Syndrome, Double Cortex

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