raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:73220

X-linked intellectual disability-hypotonic face syndrome

inactive · moved to ORPHA:847X-linked alpha-thalassemia-intellectual disability syndrome

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 Alpha-thalassemia-X-linked intellectual disability syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enX-linked intellectual disability-hypotonic face syndrome
frSyndrome de déficience intellectuelle liée à l'X-faciès hypotonique
deX-chromosomale Intelligenzminderung-Syndrom-hypotones Gesicht-Syndrom
esSíndrome de discapacidad intelectual ligada al cromosoma X-rostro hipotónico
itSindrome da disabilità intellettiva e facies ipotonica legata all'X
nlX-gebonden intellectuele achterstand - hypotoon aangezicht-syndroom
ptSíndrome de perturbação do desenvolvimento intelectual ligada ao X-hipotonia facial
plNiepełnopsrawność intelektualna sprzężona z chromosomem X - hipotnia twarzy
csSyndrom zahrnující X-vázanou mentální retardaci a hypotonický obličej
ukХ-зчеплений синдром розумової відсталості-гіпотонічного обличчя
zhX连锁智力低下-低张力面容综合征
trX'e bağlı zihinsel yetersizlik-hipotonik yüz sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM309580Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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