ORPHA:261572
OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
inactive · referred to ORPHA:126Blepharophimosis-ptosis-epicanthus inversus syndrome
Synonyms: OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Status
- inactive
- Flag
- Obsolete entity
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome | OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation |
| fr | OBSOLETE : Syndrome de blépharophimosis-ptosis-épicanthus inversus dû à une mutation ponctuelle | OBSOLETE : Blépharophimosis types 1 et 2 dus à une mutation ponctuelle |
| de | OBSOLET: Blepharophimose-Syndrom mit Epicanthus inversus und Ptosis durch Punktmutationen | OBSOLET: Blepharophimose Typ 1 und 2 durch Punktmutationen |
| es | OBSOLETO: Síndrome de blefarofimosis-epicanto inverso-ptosis por una mutación puntual | OBSOLETO: Blefarofimosis tipos 1 y 2 por una mutación puntual |
| it | OBSOLETO: Sindrome blefarofimosi-epicanto inverso-ptosi da mutazione puntiforme | OBSOLETO: Blefarofimosi tipi 1 e 2 da mutazione puntiforme |
| nl | OBSOLEET: Blefarofimose - epicanthus inversus - ptose door een puntmutatie-syndroom | OBSOLEET: Blefarofimose types 1 en 2 door een puntmutatie |
| pt | OBSOLETO: Blefarofimose-epicanto inverso-ptose por síndrome de mutação pontual | |
| pl | NIEAKTUALNE: Zwezenie szpary powiekowej - odwrócona zmarszczka nakatna - ptoza z powodu mutacji punktowej | NIEAKTUALNE: Zwężenie szpary powiekowej typu 1 i 2 z powodu mutacji punktowej |
| cs | NEAKTUÁLNÍ: Syndrom zahrnující blefarofimózu, epikantus inversus a ptózu, způsobený bodovou mutací | NEAKTUÁLNÍ: Blefarofimóza, typy 1 a 2, způsobené bodovou mutací |
| uk | ЗАСТАРІЛО: Синдром блефарофімозу-зворотнього епіканту-птозу, зумовлений точковою мутацією | ЗАСТАРІЛО: Блефарофімоз типів 1 і 2, спричинений точковою мутацією |
| zh | 弃用：点突变所致睑裂狭小-上睑下垂-倒向型内眦赘皮综合征 | 点突变所致睑裂狭小1型和2型 |
| tr | Eski adı: Nokta mutasyon sendromuna bağlı blefarofimoz-epikantus inversus-pitozis | Nokta mutasyonu'na bağlı Blefarofimoz tipleri 1 ve 2 |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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/261572
- This record as JSON: /data/d/261572.json