ORPHA:329255

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculocerebrofacial syndrome, Kaufman type

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
fr	Syndrome de blépharophimosis-déficience intellectuelle par déficit en UBE3B
de	Blepharophimose-Intelligenzminderung-Syndrom durch UBE3B-Mangel
es	Síndrome de blefarofimosis-discapacidad intelectual por deficiencia de UBE3B
it	Sindrome blefarofimosi-deficit cognitivo, da deficit di UBE3B
nl	Blefarofimose - intellectuele achterstandsyndroom door UBE3B-deficiëntie
pt	Síndrome de blefarofimose-perturbação do desenvolvimento intelectual devida a défice de UBE3B
pl	Zespół zwężenie szpary powiekowej - niepełnosprawność intelektualna spowodowany niedoborem UBE3B
cs	Syndrom zahrnující blefarofimózu a mentální postižení, způsobený UBE3B deficitem
uk	Блефарофімоз - синдром інтелектуальної недостатності, зумовлений дефіцитом UBE3B
zh	UBE3B基因缺陷所致K睑裂狭小-智力障碍综合征
tr	Blefarofimosis-UBE3B eksikliğine bağlı zihinsel yetersizlik sendromu

qualifier = Orphanet mapping relation

No cross-references in this release.

Not placed in any Orphanet classification in this release.

No children.

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.