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DeCS
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Descriptor English:
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Classical Lissencephalies and Subcortical Band Heterotopias
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Descriptor Spanish:
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lisencefalias clįsicas y heterotopias subcorticales en banda
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Descriptor Portuguese:
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Lissencefalias Clįssicas e Heterotopias Subcorticais em Banda
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Synonyms English:
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Agyria Pachygyria Band Spectrum
Agyria-Pachygyria-Band Spectrum
Band Heterotopia, Lissencephaly-Subcortical
Chromosome 17p13.3 Deletion Syndrome
Classic Lissencephaly
Classical Lissencephalies
Classical Lissencephaly
Classical Lissencephaly Syndrome
Double Cortex Syndrome
Heterotopia, Lissencephaly-Subcortical Band
Heterotopia, Subcortical Band
Heterotopia, Subcortical Laminar
Heterotopias, Lissencephaly-Subcortical Band
Heterotopias, Subcortical Band
Heterotopias, Subcortical Laminar
Isolated Lissencephaly Sequence
Lissencephalies, Classical
Lissencephalies, Type 1
Lissencephalies, X-Linked
Lissencephaly 1
Lissencephaly Sequence, Isolated
Lissencephaly Subcortical Band Heterotopia
Lissencephaly Syndrome, Miller Dieker
Lissencephaly Syndrome, Miller-Dieker
Lissencephaly Type 1
Lissencephaly, Classic
Lissencephaly, Classical
Lissencephaly, Miller Dieker
Lissencephaly, Miller-Dieker
Lissencephaly, Type 1
Lissencephaly, X Linked
Lissencephaly, X-Linked
Lissencephaly, X-Linked, 1
Lissencephaly-Subcortical Band Heterotopia
Lissencephaly-Subcortical Band Heterotopias
Miller Dieker Lissencephaly Syndrome
Miller Dieker Syndrome
Miller-Dieker Lissencephaly
Miller-Dieker Lissencephaly Syndrome
Miller-Dieker Syndrome
Subcortical Band Heterotopia
Subcortical Band Heterotopias
Subcortical Laminar Heterotopia
Syndrome, Double Cortex
Syndrome, Miller-Dieker
Syndrome, Miller-Dieker Lissencephaly
Type 1 Lissencephalies
Type 1 Lissencephaly
X Linked Lissencephaly
X-Linked Lissencephalies
X-Linked Lissencephaly
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Tree Number:
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C10.500.507.450.230
C10.500.507.450.499.230
C16.131.666.507.450.230
C16.131.666.507.450.499.230
C16.320.322.500.186
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Definition English:
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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.) |
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History Note English:
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2008
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Allowable Qualifiers English:
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Record Number:
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52595
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Unique Identifier:
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D054221
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Occurrence in VHL:
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Similar:
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DeCS
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