raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2174

Hunter-Carpenter-McDonald syndrome

inactive · moved to ORPHA:35069PLA2G6-related neurodegeneration, infantile-onset

Type
Disease
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Infantile neuroaxonal dystrophy

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHunter-Carpenter-McDonald syndrome
frSyndrome de Hunter-Carpenter-McDonald
deHunter-Carpenter-McDonald-Syndrom
esSíndrome de Hunter-Carpenter-McDonald
itSindrome di Hunter-Carpenter-McDonald
nlSyndroom van Hunter-Carpenter-McDonald
ptSíndrome Hunter-Carpenter-McDonald
plZespół Huntera, Carpenteara i McDonalda
csHunterův-Carpenterův-McDonaldův syndromHunter-Carpenter-McDonaldův syndrom
ukСиндром Хантера-Карпентера-МакДональда
zhHunter-Carpenter-McDonald综合征
trHunter-Carpenter-McDonald 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