raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:598164

FOXG1 syndrome due to intragenic alteration

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Status
active

This disease is described under FOXG1 syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFOXG1 syndrome due to intragenic alteration
frSyndrome FOXG1 dû à une altération intragénique
deFOXG1-Syndrom durch intragenische Veränderung
esSíndrome FOXG1 por alteración intragénica
itSindrome FOXG1 da alterazione intragenica
nlFOXG1-syndroom door intragenische verandering
ptSíndrome FOXG1 por modificação intragénica
plZespół FOXG1 z powodu wewnatrzgenowej zmiany
csSyndrom FOXG1 způsobený intragenovou změnou
ukСиндром FOXG1, зумовлений внутрішньогенними змінами
zhFOXG1 syndrome due to intragenic alteration
trFOXG1 syndrome due to intragenic alteration
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q04.8NTBTattributedvalidated
MONDO0035713Evalidated
UMLSC5681589Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
FOXG1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:3811ENSG0000017616516487414q12forkhead box G131454984[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