ORPHA:2816

Spastic paraplegia-epilepsy-intellectual disability syndrome

Synonyms: SPEMR

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic glucose transporter type 1 deficiency syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Spastic paraplegia-epilepsy-intellectual disability syndrome	SPEMR
fr	Syndrome de paraplégie spastique-épilepsie-déficience intellectuelle	= en
de	Spastische Paraplegie-Epilepsie-Intelligenzminderung-Syndrom	= en
es	Síndrome de paraplejía espástica-epilepsia-discapacidad intelectual	= en
it	Sindrome paraplegia spastica-epilessia-disabilità intellettiva	= en
nl	Spastische paraplegie - epilepsie - intellectuele achterstand-syndroom	= en
pt	Síndrome de paraplegia espástica-epilepsia-perturbação do desenvolvimento intelectual	= en
pl	Paraplegia spastyczna - padaczka - niepełnosprawność intelektualna	SPERM
cs	Syndrom zahrnující spastickou paraplegii, epilepsii a mentální retardaci	SPERM
uk	Синдром спастичної параплегії-епілепсії-інтелектуальної недостатності	= en
zh	痉挛性截瘫-癫痫-智力障碍综合征	= en
tr	Spastik parapleji-epilepsi-zihinsel yetersizlik sendromu	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	182610	E		validated
GARD	4915	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.