ORPHA:329206
OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome
inactive · referred to ORPHA:370953Congenital muscular dystrophy due to dystroglycanopathy
Synonyms: OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Obsolete entity
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome | OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome |
| fr | OBSOLETE : Syndrome de dystrophie musculaire congénitale-hypertrophie musculaire-déficience intellectuelle sévre | OBSOLETE : Dystrophie musculaire congénitale-hypertrophie musculaire-déficience intellectuelle par déficit en POMT1 |
| de | OBSOLET: Kongenitale Muskeldystrophie-Muskelypertrophie-Schwere Intelligenzminderung-Syndrom | |
| es | OBSOLETO: Síndrome congénito de distrofia muscular-hipertrofia muscular-discapacidad intelectual grave | OBSOLETO: Síndrome congénito de distrofia muscular-hipertrofia muscular-discapacidad intelectual asociada a POMT1 |
| it | OBSOLETO: Sindrome distrofia muscolare congenita-ipertrofia muscolare-deficit cognitivo grave | OBSOLETO: Sindrome distrofia muscolare congenita-ipertrofia muscolare-deficit cognitivo da POMT1 |
| nl | OBSOLEET: Congenitale spierdystrofie - spierhypertrofie - ernstige intellectuele achterstand-syndroom | OBSOLEET: Congenitale spierdystrofie - spierhypertrofie - intellectuele achterstand door POMT1-syndroom |
| pt | OBSOLETO: Síndrome de distrofia muscular congénita-hipertrofia muscular-perturbação do desenvolvimento intelectual grave | |
| pl | NIEAKTUALNE: Wrodzona dystrofia miesniowa - przerost miesni - ciezka niepelnosprawnosc intelektualna | NIEAKTUALNE: Wrodzona dystrofia mięśniowa - przerost mięśni - niepełnosprawność intelektualna spowodowana POMT1 |
| cs | NEAKTUÁLNÍ: Syndrom vrozené svalové dystrofie a svalové hypertrofie s těžkým mentálním postižením | = en |
| uk | Синдром вродженої мязової дистрофії-гіпертрофії мязів-тяжкої розумової відсталості | ЗАСТАРІЛО: Вроджена мязова дистрофія - гіпертрофія мязів - розумова відсталість внаслідок синдрому POMT1 |
| zh | 先天性肌营养不良-肌肉肥大-重度智障综合征 | POMT1所致先天性肌营养不良-肌肉肥大-重度智障综合征 |
| tr | Eski adı: Doğumsal kas distrofisi-kas hipertrofisi-ağır zihinsel yetersizlik sendromu | Doğumsal kas distrofisi-kas hipertrofisi-POMT1 sendromuna bağlı zihinsel yetersizlik |
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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/329206
- This record as JSON: /data/d/329206.json