ORPHA:94084

Cerebro-oculo-facial-lymphatic syndrome

Synonyms: Fryns-Aftimos syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cerebro-oculo-facial-lymphatic syndrome	Fryns-Aftimos syndrome
fr	Syndrome cérébro-oculo-facio-lymphatique	Syndrome de Fryns-Aftimos
de	Zerebro-okulo-fazial-lymphatisches-Syndrom	Fryns-Aftimos-Syndrom
es	Síndrome cerebro-óculo-facio-linfático	Síndrome de Fryns-Aftimos
it	Pachigiria - epilessia - ritardo mentale - dismorfismi	Sindrome di Fryns-Aftimos
nl	Cerebro-oculo-faciaal-lymfatisch syndroom	Syndroom van Fryns-Aftimos
pt	Síndrome cerebro-oculo-facial-linfático	Síndrome Fryns-Aftimos
pl	Pachygyria - padaczka - niepełnosprawność intelektualna- dysmorfia	Zespół Frynsa i Aftimosa · Zespół mózgowo-oczno-twarzowo-limfatyczny
cs	Syndrom zahrnující pachygyrii, epilepsii, mentální retardaci a dysmorfismus	Cerebrookulofaciální-lymfatický syndrom · Frynsův-Aftimosův syndrom · Fryns-Aftimosův syndrom
uk	Цереброокулофаціальнолімфатичний синдром	Синдром Фрінса-Афтімоса
zh	脑-眼-面-淋巴综合征	Fryns-Aftimos综合征
tr	Serebro-okülo-fasiyal lenfatik sendrom	Fryns-Aftimos sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C1853623	E		validated

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

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.