raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:728528

Pontocerebellar hypoplasia and related disorders

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

9 of 12 languages
LangNameSynonyms
enPontocerebellar hypoplasia and related disorders
frHypoplasie pontocérébelleuse et maladies associées
dePontozerebelläre Hypoplasie und verwandte Störungen
esHipoplasia pontocerebelosa y trastornos relacionados
itIpoplasia pontocerebellare e malattie correlate
nlPontocerebellaire hypoplasie en gerelateerde aandoeningen
ptPontocerebellar hypoplasia and related disorders
plPontocerebellar hypoplasia and related disorders
csPontocerebellar hypoplasia and related disorders
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (3):

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