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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Lissencephaly (D054082)
Parent Node: Malformations of Cortical Development, Group II (D054081)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Classical Lissencephalies and Subcortical Band Heterotopias (D054221)
Child Nodes:
........Band Heterotopia of Brain (C563950)
........Double cortex (C538475)
........Lissencephaly and agenesis of corpus callosum (C531731)
........Lissencephaly, X-Linked, 2 (C564563)
........Subcortical Band Heterotopia, X-Linked (C564722)
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2416

Name:

Classical Lissencephalies and Subcortical Band Heterotopias

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.)

Alternative IDs:

OMIM:247200|OMIM:300067

ParentIDs:

MESH:D038901|MESH:D054081|MESH:D054082

TreeNumbers:

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

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D054221
MeSH: D054221
OMIM: 247200;

Genes: AF8T; DCX;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001627	Abnormal heart morphology
3	HP:0030680	Abnormality of cardiovascular system morphology	HP:0040284
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0000463	Anteverted nares
6	HP:0025386	Bitemporal hollowing
7	HP:0012385	Camptodactyly
8	HP:0000518	Cataract
9	HP:0002389	Cavum septum pellucidum	HP:0040284
10	HP:0000175	Cleft palate
11	HP:0004209	Clinodactyly of the 5th finger	HP:0040284
12	HP:0001466	Contiguous gene syndrome
13	HP:0000028	Cryptorchidism
14	HP:0001558	Decreased fetal movement
15	HP:0006191	Deep palmar crease	HP:0040284
16	HP:0000684	Delayed eruption of teeth
17	HP:0002247	Duodenal atresia
18	HP:0000286	Epicanthus	HP:0040284
19	HP:0001508	Failure to thrive
20	HP:0002007	Frontal bossing	HP:0040281
21	HP:0002282	Gray matter heterotopia
22	HP:0002079	Hypoplasia of the corpus callosum	HP:0040284
23	HP:0008947	Infantile muscular hypotonia
24	HP:0012469	Infantile spasms
25	HP:0000023	Inguinal hernia
26	HP:0001249	Intellectual disability	HP:0040280
27	HP:0001511	Intrauterine growth retardation	HP:0040284
28	HP:0001511	Intrauterine growth retardation
29	HP:0009473	Joint contracture of the hand	HP:0040284
30	HP:0001339	Lissencephaly	HP:0040284
31	HP:0000369	Low-set ears	HP:0040284
32	HP:0000252	Microcephaly	HP:0040284
33	HP:0000347	Micrognathia	HP:0040284
34	HP:0007045	Midline brain calcifications	HP:0040284
35	HP:0001270	Motor delay	HP:0040280
36	HP:0001539	Omphalocele
37	HP:0001302	Pachygyria
38	HP:0000125	Pelvic kidney
39	HP:0010442	Polydactyly
40	HP:0001561	Polyhydramnios	HP:0040284
41	HP:0000358	Posteriorly rotated ears	HP:0040281
42	HP:0007020	Progressive spastic paraplegia
43	HP:0002100	Recurrent aspiration pneumonia
44	HP:0000960	Sacral dimple	HP:0040284
45	HP:0003196	Short nose	HP:0040284
46	HP:0000954	Single transverse palmar crease	HP:0040284
47	HP:0000215	Thick upper lip vermilion	HP:0040284
48	HP:0000219	Thin upper lip vermilion
49	HP:0000582	Upslanted palpebral fissure
50	HP:0000431	Wide nasal bridge	HP:0040284

Disease Causing ClinVar Variants