ORPHA:171714
Amish infantile epilepsy syndrome
inactive · moved to ORPHA:370933GM3 synthase deficiency
Synonyms: Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amish infantile epilepsy syndrome | Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome |
| fr | Syndrome d'épilepsie infantile type Amish | Syndrome d'épilepsie infantile symptomatique-arrêt de développement-cécité |
| de | Epilepsie-Syndrom, infantiles, Amish-Typ | Infantiles Epilepsie-Syndrom mit Entwicklungsstillstand und Blindheit |
| es | Síndrome epiléptico infantil de los Amish | Síndrome de síndrome epilético sintomático de inicio en la lactancia-estancamiento del desarrollo-ceguera |
| it | Sindrome dell'epilessia infantile degli Amish | Sindrome epilettica sintomatica a esordio infantile - arresto dello sviluppo - cecità |
| nl | Amish infantiel epilepsiesyndroom | Symptomatisch epilepsiesyndroom met aanvang in de zuigelingentijd - ontwikkelingsstilstand - blindheid-syndroom |
| pt | Síndrome de epilepsia da infância Amish | |
| pl | Zespół niemowlęcej padaczki Amiszów | Zespół padaczki o początku w wieku niemowlęcym, zatrzymania rozwoju i ślepoty |
| cs | Infantilní epileptický syndrom Amišů | Syndrom zahrnující infantilní symptomatickou epilepsii, stagnaci vývoje a slepotu |
| uk | Синдром епілепсії раннього дитячого віку амішів | Інфантильний синдром симптоматичної епілепсії - стагнації розвитку - сліпоти |
| zh | Amish婴儿期癫痫综合征 | 婴幼儿起病症状性癫痫综合征-发育停滞-失明综合征 |
| tr | Amish infantil epilepsi sendromu | İnfantil başlangıçlı semptomatik epilepsi sendromu gelişimsel durgunluk-körlük sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1836824 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171714
- This record as JSON: /data/d/171714.json