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lissencephaly

brain disorder that prevents growth of brain folds
Class type of: nervous system malformations, neuronal migration disorder, syndrome with a central nervous system malformation as major feature Q1544416

Facts

8 properties
Instance of
designated intractable/rare disease, rare disease, class of disease, symptom or sign[6][7][8]
Subclass of
nervous system malformations, neuronal migration disorder, syndrome with a central nervous system malformation as major feature, cerebral malformation with epilepsy, rare genetic developmental defect during embryogenesis, genetic syndromic intellectual disability, classical lissencephalies and subcortical band heterotopias, developmental defect during embryogenesis[9][10][11][12]
Age of onset
infantile onset, neonatal onset[31][32]
Genetic association
TUBA1A, PAFAH1B1, ARX, LAMB1, DCX, NDE1, KATNB1, CDK5, ACTB, ACTG1, DAG1, HIC1, PHGDH, PSPH, RELN, YWHAE, MACF1, RAB18, TBC1D20, RAB3GAP1, RAB3GAP2, PSAT1, CEP85L, TMTC3[17][18][19][20][21][22][23][24][25][26][27][28][29][30]
Health specialty
medical genetics, neurology[15][16]
ICPC 2 ID
N85[13]
NCI Thesaurus ID
C103921[14]
On focus list of Wikimedia project
WikiProject Medicine[33]
🏷️ Also known as
en lissencephaly en Lissencephaly en Nerve cell migration disorder en Neuronal migration defect ar انعدام تلافيف الدماغ cs lisencefalie de Pachygyrie de Agyrie de Lissencephalie de Lissenzephalie de Mikrogyrie de Miller-Dieker-Syndrom es Agiria es lisencefalia fi Lissenkefalia fr lissencéphalie fr Lissencephalie he תסמונת המוח החלק it lissencefalia ja 滑脳症
🔖 Identifiers · 26
OpenAlex ID
C2780698589
Image (Wikimedia Commons)
Lissencephaly.jpg ↗
BabelNet ID
01632538n
DeCS ID
52594
Disease Ontology ID
DOID:0050453
DiseasesDB
29492
Encyclopædia Britannica Online ID
science/lissencephaly
Exact match
purl.obolibrary.org, identifiers.org, purl.obolibrary.org, www.orpha.net, www.orpha.net
External data available at URL
www.nanbyou.or.jp
Freebase ID
/m/01hr9g
GARD rare disease ID
12291
GeneReviews ID
NBK1185, NBK5189
Show all 26 identifiers +14
Human Phenotype Ontology ID
HP:0001339
ICD-10-CM
Q04.8, Q04.3
KEGG ID
H00268
MeSH descriptor ID
D054082
MeSH tree code
C10.500.507.450.499, C16.131.666.507.450.499
Microsoft Academic ID (discontinued)
2780698589, 2908768683
Mondo ID
MONDO_0018838
OMIM ID
300k (300k–615k, n=6)
Orphanet ID
48471
PatientsLikeMe condition ID
lissencephaly
Quora topic ID
Lissencephaly
Raras disease ID
D48471
UMLS CUI
C0266483, C0266463, C1879312
WikiProjectMed ID
Lissencephaly

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Genetic association 4
PAFAH1B1, DCX, NDE1, KATNB1
Health specialty 2
neurology, medical genetics
Instance of 2
rare disease, symptom or sign
Subclass of 2
disease, nervous system malformations
Subtypes 2
Norman–Roberts syndrome, muscle-eye-brain disease
← Genetic association 2
DCX, KATNB1
On focus list of Wikimedia project 1
WikiProject Medicine
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Summary

lissencephaly is a designated intractable/rare disease[1]. lissencephaly is a type of nervous system malformations[2], neuronal migration disorder[3], syndrome with a central nervous system malformation as major feature[4], and cerebral malformation with epilepsy[5].

Related Entities

disease neurology

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [7] ↑ . wikidata.org.
  3. [8] ↑ . wikidata.org.
  4. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [3] ↑ . wikidata.org.
  6. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).. wikidata.org.
  17. [18] ↑ . Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).. wikidata.org.
  18. [19] ↑ . Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. wikidata.org.
  19. [20] ↑ . Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. wikidata.org.
  20. [21] ↑ . A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  21. [22] ↑ . The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. wikidata.org.
  22. [23] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . wikidata.org.
  28. [29] ↑ . Retrieved . wikidata.org.
  29. [30] ↑ . Retrieved . wikidata.org.
  30. [31] ↑ . Retrieved . wikidata.org.
  31. [32] ↑ . Retrieved . wikidata.org.
  32. [33] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). lissencephaly. Retrieved November 9, 2026, from https://4ort.xyz/entity/lissencephaly
MLA “lissencephaly.” 4ort.xyz Knowledge Graph, 4ort.xyz, 9 Nov. 2026, https://4ort.xyz/entity/lissencephaly.
BibTeX @misc{4ortxyz_lissencephaly_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{lissencephaly}}, year = {2026}, url = {https://4ort.xyz/entity/lissencephaly}, note = {Accessed: 2026-11-09}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 18d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Genetic association → TUBA1A, PAFAH1B1, ARX +1
    Age of onset → infantile onset, neonatal onset
    Raras disease ID → D48471
    "Changed the item: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Subclass of → nervous system malformations, neuronal migration disorder, syndrome with a central nervous system malformation as major +1
    Instance of → designated intractable/rare disease, rare disease, class of disease +1
    "Changed the item: QuickStatements 3.0 batch #39953: deprecate redundant disease superclasses (2)"
  3. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → nervous system malformations, neuronal migration disorder, syndrome with a central nervous system malformation as major +1
    Health specialty → medical genetics, neurology
    Genetic association → TUBA1A, PAFAH1B1, ARX +1
    Instance of → designated intractable/rare disease, rare disease, class of disease +1
    + 1 other property edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39732: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.