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Ontology Browser

Term:
Classical Lissencephalies and Subcortical Band Heterotopias (DOID:9008500)
Annotations: Rat: (5) Mouse: (5) Human: (6) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
Aldred Syndrome 
Allan-Herndon-Dudley syndrome  
alpha thalassemia-X-linked intellectual disability syndrome  
Arena Syndrome 
Atkin Syndrome  
Baraitser-Winter syndrome +   
Charcot-Marie-Tooth disease X-linked recessive 4  
Chromosome Xp11.3 Deletion Syndrome  
CK syndrome  
Classical Lissencephalies and Subcortical Band Heterotopias +   
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.)
Cobblestone Lissencephaly +   
Coffin-Lowry syndrome  
creatine transporter deficiency  
Danon disease  
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
FG syndrome +   
fragile X syndrome +   
Frontotemporal Pachygyria 
Lesch-Nyhan syndrome +   
Lissencephaly 10  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 5  
Lissencephaly 6, with Microcephaly  
Lissencephaly 7 with Cerebellar Hypoplasia  
Lissencephaly 8  
Lissencephaly 9 with Complex Brainstem Malformation  
Lujan Fryns Syndrome  
Massa Casaer Ceulemans Syndrome 
Menkes disease +   
Mental Retardation X-Linked, South African Type 
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly  
Mental Retardation, X-Linked 102  
Mental Retardation, X-Linked 95  
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 
Mental Retardation, X-Linked, Syp-Related 
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency  
methylmalonic acidemia and homocysteinemia cblX type  
Miller-Dieker lissencephaly syndrome  
mucopolysaccharidosis II  
non-syndromic X-linked intellectual disability +   
Norman-Roberts syndrome  
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
Partial Lissencephaly 
Plagiocephaly and X-Linked Mental Retardation 
Ppm-X Syndrome 
pyruvate decarboxylase deficiency +   
Rett syndrome +   
Roifman Syndrome  
severe congenital encephalopathy due to MECP2 mutation  
syndromic microphthalmia 1  
syndromic X-linked intellectual disability +   
Tranebjaerg Svejgaard syndrome 
Winter Harding Hyde Syndrome 
Wittwer Syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-Linked Mental Retardation Gustavson Type 
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-Linked Mental Retardation with Panhypopituitarism  

Synonyms
Exact Synonyms: Classic Lissencephaly ;   Classical Lissencephaly ;   Classical Lissencephaly Syndrome ;   Heterotopias, Subcortical Laminar ;   Isolated Lissencephaly Sequence ;   LISX1 ;   Lissencephaly 1 ;   Lissencephaly Subcortical Band Heterotopia ;   Lissencephaly Type 1 ;   X-linked lissencephalies ;   X-linked lissencephaly ;   X-linked lissencephaly 1 ;   XLIS ;   agyria pachygyria band spectrum ;   classical lissencephalies ;   lissencephalies type 1 ;   lissencephaly-subcortical band heterotopias
Narrow Synonyms: LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED ;   SBH ;   SCLH
Primary IDs: MESH:D054221
Alternate IDs: OMIM:300067
Definition Sources: MESH:D054221

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