(Q1544416)

28 July 2018

designated intractable/rare disease

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

0 references

0 references

nervous system malformations

1 reference

15 May 2019

neuronal migration disorder

0 references

syndrome with a central nervous system malformation as major feature

1 reference

28 July 2018

cerebral malformation with epilepsy

1 reference

28 July 2018

rare genetic developmental defect during embryogenesis

1 reference

28 July 2018

genetic syndromic intellectual disability

1 reference

28 July 2018

classical lissencephalies and subcortical band heterotopias

0 references

0 references

0 references

0 references

2 references

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

PAFAH1B1

1 reference

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

ARX

1 reference

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

LAMB1

1 reference

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities

DCX

2 references

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

25 February 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3b0d23d1-5ca6-4584-9d74-cf78ca21b0e1-2021-02-23T150911.296Z

NDE1

1 reference

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

KATNB1

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000140854/Orphanet_48471

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4396

language of work or name

Japanese

1 reference

https://ddrare.nibiohn.go.jp/

on focus list of Wikimedia project

17 May 2019

WikiProject Medicine

0 references

ICPC 2 ID

N85

1 reference

http://purl.obolibrary.org/obo/DOID_0050453

Spanish Wikipedia

NCI Thesaurus ID

C103921

1 reference

28 August 2019

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0050453

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://purl.obolibrary.org/obo/HP_0001339

1 reference

8 October 2018

http://www.orpha.net/ORDO/Orphanet_102009

0 references

http://www.orpha.net/ORDO/Orphanet_48471

0 references

Commons category

Lissencephaly

0 references

Identifiers

MeSH descriptor ID

D054082

mapping relation type

exact match

subject named as

Lissencephaly

1 reference

PatientsLikeMe condition ID

28 July 2018

0 references

C16.131.666.507.450.499

0 references

0 references

0 references

1 reference

0 references

1 reference

28 August 2019

1 reference

Encyclopædia Britannica Online ID

English Wikipedia

science/lissencephaly

subject named as

lissencephaly

0 references

1 reference

28 October 2013

1 reference

28 August 2019

1 reference

English Wikipedia

NBK5189

1 reference

English Wikipedia

2 references

28 July 2018

8 October 2018

2 references

28 August 2019

28 July 2018

2 references

28 August 2019

28 July 2018

https://docs.openalex.org/download-snapshot/snapshot-data-format

Microsoft Academic ID

0 references

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

26 January 2022

Orphanet ID

48471

mapping relation type

exact match

1 reference

28 July 2018

1 reference

1 reference

28 August 2019

2 references

28 August 2019

8 October 2018

C1879312

1 reference

8 October 2018