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Disease Classical Lissencephalies and Subcortical Band Heterotopias

Name Classical Lissencephalies and Subcortical Band Heterotopias
Synonyms Agyria Pachygyria Band Spectrum | Agyria-Pachygyria-Band Spectrum | Band Heterotopia, Lissencephaly-Subcortical | Chromosome 17p13.3 Deletion Syndrome | Classical Lissencephalies | Classical Lissencephaly | Classical Lissencephaly Syndrome | Classic Lissencephaly | DC SYNDROME, INCLUDED | Double Cortex Syndrome | DOUBLE CORTEX SYNDROME, INCLUDED | Heterotopia, Lissencephaly-Subcortical Band | Heterotopias, Lissencephaly-Subcortical Band | Heterotopias, Subcortical Band | Heterotopias, Subcortical Laminar | Heterotopia, Subcortical Band | Heterotopia, Subcortical Laminar | Isolated Lissencephaly Sequence | Lissencephalies, Classical | Lissencephalies, Type 1 | Lissencephalies, X-Linked | Lissencephaly 1 | LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED | Lissencephaly, Classic | Lissencephaly, Classical | Lissencephaly, Miller Dieker | Lissencephaly, Miller-Dieker | Lissencephaly Sequence, Isolated | Lissencephaly Subcortical Band Heterotopia | Lissencephaly-Subcortical Band Heterotopia | Lissencephaly-Subcortical Band Heterotopias | Lissencephaly Syndrome, Miller Dieker | Lissencephaly Syndrome, Miller-Dieker | Lissencephaly Type 1 | Lissencephaly, Type 1 | Lissencephaly, X Linked | Lissencephaly, X-Linked | Lissencephaly, X-Linked, 1 | LISX1 | MDCR, INCLUDED | MDLS | MDS CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED | Miller-Dieker Lissencephaly | Miller Dieker Lissencephaly Syndrome | Miller-Dieker Lissencephaly Syndrome | Miller Dieker Syndrome | Miller-Dieker Syndrome | MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED | SBH, INCLUDED | SCLH, INCLUDED | Subcortical Band Heterotopia | Subcortical Band Heterotopias | SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED | Subcortical Laminar Heterotopia | Syndrome, Double Cortex | Syndrome, Miller-Dieker | Syndrome, Miller-Dieker Lissencephaly | Type 1 Lissencephalies | Type 1 Lissencephaly | X-Linked Lissencephalies | X Linked Lissencephaly | X-Linked Lissencephaly | XLIS
Definition 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.)
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D054221
OMIM® IDs 247200 | 300067
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Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Classical Lissencephalies and Subcortical Band Heterotopias Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Lissencephaly Has associated chemicals Has associated genes Classical Lissencephalies and Subcortical Band Heterotopias Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Classical Lissencephalies and Subcortical Band Heterotopias Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Malformations of Cortical Development Has associated chemicals Has associated genes Malformations of Cortical Development, Group II Has associated chemicals Has associated genes Lissencephaly Has associated chemicals Has associated genes Classical Lissencephalies and Subcortical Band Heterotopias Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Classical Lissencephalies and Subcortical Band Heterotopias Has associated chemicals Has associated genes

Top ↑ Descendants

Classical Lissencephalies and Subcortical Band Heterotopias Has associated chemicals Has associated genes
  Band Heterotopia of Brain
  Double cortex
  Lissencephaly and agenesis of corpus callosum
  Lissencephaly, X-Linked, 2 Has associated chemicals Has associated genes
  Subcortical Band Heterotopia, X-Linked