raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:94061

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome

inactive · referred to ORPHA:101997Primary immunodeficiency

Type
Disease
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Primary immunodeficiency

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Macrocephaly-immune deficiency-anemia syndrome
frOBSOLETE : Syndrome de macrocéphalie-déficit immunitaire-anémie
deOBSOLET: Makrozephalie - Immundefekt - Anämie
esOBSOLETO: Síndrome de macrocefalia-deficiencia inmunitaria-anemia
itOBSOLETO: Macrocefalia - immunodeficienza - anemia
nlOBSOLEET: Macrocefalie - immuundeficiëntie - anemie-syndroom
ptOBSOLETO: Síndrome de macrocefalia-imunodeficiência-anemia
plNIEAKTUALNE: Makrocefalia - Niedobór odpornosci - niedokrwistosc
csNEAKTUÁLNÍ: Syndrom zahrnující makrocefalii, imunitní deficit a anemii
ukСиндром макроцефалії-імунодефіциту-анемії
zh弃用:大头-免疫缺陷-贫血综合征
trEski adı: Makrosefali-immün yetmezlik-anemi 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