raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:269560

Genetic cerebellar malformation

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGenetic cerebellar malformation
frMalformation génétique du cerveletMalformation cérébelleuse génétique
deZerebelläre Fehlbildung, genetisch bedingte
esMalformación genética del cerebelo
itMalformazione cerebellare genetica
nlGenetische cerebellaire malformatie
ptMalformação cerebelosa genética
plMalformacja móżdżku uwarunkowana genetycznie
csGeneticky podmíněné malformace mozečku
ukГенетично обумовлена вада розвитку мозочка
zh遗传性小脑畸形
trGenetik serebellar malformasyon
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5680769Evalidated

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):

Children (1):

4

Genes

0 direct

Orphanet records no gene directly on this code.

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