raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:52183

Premature chromosome condensation with microcephaly and intellectual disability

inactive · moved to ORPHA:2512Autosomal recessive primary microcephaly

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 Autosomal recessive primary microcephaly

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPremature chromosome condensation with microcephaly and intellectual disability
frSyndrome de condensation chromosomique prématurée-microcéphalie-déficience intellectuelle
deVorzeitige Chromosomenkondensation mit Mikrozephalie und mentaler Retardierung
esCondensación prematura de cromosomas con microcefalia y discapacidad intelectual
itCondensazione prematura dei cromosomi - microcefalia - ritardo mentale
nlPremature chromosoomcondensatie met microcefalie en intellectuele achterstand
ptCondensação precoce dos cromossomas com microcefalia e perturbação do desenvolvimento intelectual
plPrzedwczesna kondensacja chromosomów z mikrocefalią i niepełnosprawnością intelektualną
csPředčasná kondenzace chromozomů provázená mikrocefalií a mentální retardací
ukПередчасна конденсація хромосом з мікроцефалією та розумовою відсталістю
zh染色体早熟凝集伴小头症和智力障碍
trErken kromozom yoğunlaşması ile ilişkili mikrosefali ve zihinsel yetersizlik
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