raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:3336

TomÚ-Brunet-Fardeau syndrome

inactive · moved to ORPHA:314632CLN12 disease

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to ATP13A2-related juvenile neuronal ceroid lipofuscinosis

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enTomÚ-Brunet-Fardeau syndrome
frSyndrome de Tomé-Brunet-Fardeau
deTome-Brune-Fardeau-Syndrom
esSíndrome de Tomé-Brunet-Fardeau
itSindrome di Tome-Brune-Fardeau
nlSyndroom van Tomé-Brunet-Fardeau
ptSíndrome Tomé-Brune-Fardeau
plZespół Tomé, Bruneta i Fardeau
csTomého-Brunetův-Fardeauův syndromTomé-Brunet-Fardeauův syndrom
ukСиндром Томю-Брюне-Фардо
zhTomÚ-Brunet-Fardeau 综合征
trTomé-Brunet-Fardeau sendromu
2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

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