raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:485275

Acquired schizencephaly

Type
Etiological subtype
Group
Subtype of disorder
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAcquired schizencephaly
frSchizencéphalie acquise
deSchizenzephalie, erworbene
esEsquizencefalia adquirida
itSchizencefalia acquisita
nlVerworven schizencefalie
ptEsquizencefalia adquirida
plSchizencefalia nabyta
csZískaná schizencefalie
ukНабута шизенцефалія
zh获得性脑裂
trEdinsel şizensefali
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM269160NTBTvalidated
ICD-10Q04.6NTBTattributedvalidated
ICD-11LA05.61NTBTattributedvalidated
MONDO0018839Evalidated
UMLSC5681246Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:799Schizencephaly
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
EMX2Major susceptibility factor inAssessedHGNC:3341ENSG0000017037060003510q26.11empty spiracles homeobox 28528262[PMID]_9153481[PMID]_9359037[PMID]_17506092[PMID]_17506092[PMID]
SHHMajor susceptibility factor inAssessedHGNC:10848ENSG000001646906007257q36.3sonic hedgehog signaling molecule19533790[PMID]_20157829[PMID]
SIX3Major susceptibility factor inAssessedHGNC:10889ENSG000001380836037142p21SIX homeobox 320157829[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card