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DeCS
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Descriptor Inglés:
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Classical Lissencephalies and Subcortical Band Heterotopias
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Descriptor Español:
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Lisencefalias Clásicas y Heterotopias Subcorticales en Banda
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Descriptor Portugués:
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Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
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Sinónimos Inglés:
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1, Lissencephaly
1, Lissencephaly Type
1s, Lissencephaly
1s, Lissencephaly Type
Agyria Pachygyria Band Spectrum
Agyria-Pachygyria-Band Spectrum
Band Heterotopia, Lissencephaly-Subcortical
Chromosome 17p13.3 Deletion Syndrome
Classic Lissencephalies
Classic Lissencephaly
Classical Lissencephalies
Classical Lissencephaly
Classical Lissencephaly Syndrome
Classical Lissencephaly Syndromes
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, Classic
Lissencephalies, Classical
Lissencephalies, Type 1
Lissencephalies, X-Linked
Lissencephaly 1
Lissencephaly 1s
Lissencephaly Sequence, Isolated
Lissencephaly Subcortical Band Heterotopia
Lissencephaly Syndrome, Classical
Lissencephaly Syndrome, Miller Dieker
Lissencephaly Syndrome, Miller-Dieker
Lissencephaly Syndromes, Classical
Lissencephaly Type 1
Lissencephaly Type 1s
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, Classical Lissencephaly
Syndrome, Double Cortex
Syndrome, Miller-Dieker
Syndrome, Miller-Dieker Lissencephaly
Syndromes, Classical Lissencephaly
Type 1 Lissencephalies
Type 1 Lissencephaly
Type 1, Lissencephaly
Type 1s, Lissencephaly
X Linked Lissencephaly
X-Linked Lissencephalies
X-Linked Lissencephaly
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Categoría:
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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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Definición Inglés:
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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.) |
Nota Histórica Inglés:
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2008
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Calificadores Permitidos Inglés:
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Número del Registro:
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52595
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Identificador Único:
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D054221
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Ocurrencia en la BVS:
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