ORPHA:101039

Female restricted epilepsy with intellectual disability

Synonyms: EFMR · Juberg-Hellman syndrome

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PCDH19 clustering epilepsy

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Female restricted epilepsy with intellectual disability	EFMR · Juberg-Hellman syndrome
fr	Epilepsie de la femme avec déficience intellectuelle	= en
de	Epilepsie mit Intelligenzminderung, auf das weibliche Geschlecht beschränkt	EFMR · Juberg-Hellman-Syndrom
es	Epilepsia con discapacidad intelectual restringida a mujeres	EFMR · Síndrome de Juberg-Hellman
it	Epilessia limitata alle femmine associata a disabilità intellettiva	EFMR · Sindrome Juberg-Hellman
nl	Tot vrouw beperkte epilepsie met intellectuele achterstand	EFMR · Syndroom van Juberg-Hellman
pt	Epilepsia restrita ao feminino com perturbação do desenvolvimento intelectual	EFMR · Síndrome Juberg-Hellman
pl	Padaczka żeńska z niepełnosprawnością intelektualną	EFMR · Zespół Juberga i Hellmana
cs	Specificky ženská epilepsie s mentální retardací	EFMR · Specificky ženská familiární epilepsie a mentální retardace
uk	Жіноча обмежена епілепсія з інтелектуальною недостатністю	EFMR · Синдром Юберга-Хелльмана
zh	女性局限性癫痫伴智力障碍	Juberg-Hellman综合征
tr	Zihinsel yetersizlik ile seyreden kadında görülen epilepsi	EFMR · Juberg-Hellman sendromu

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0010246	E	validated
MeSH	C564715	E	validated
UMLS	C1848137	E	validated
GARD	10806	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.