Bardet-Biedl syndrome (Q94128): Difference between revisions
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Síndrome de Bardet-Biedl é uma ciliopatia com envolvimento multisistêmico que é caracterizada por uma combinação de sinais clínicos : obesidade, retinopatia pigmentar, polidactilia pós-axial, rins policísiticos, hipogenitalismo e dificuldade de aprendizagem, muitas das quais aparecem vários anos após o início da doença. | |||
| description / en | description / en | ||
Bardet-Biedl syndrome is a ciliopathy with multisystem involvement that is characterised by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. | |||
Revision as of 09:14, 16 August 2026
Bardet-Biedl syndrome is a ciliopathy with multisystem involvement that is characterised by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset.
| Language | Label | Description | Also known as |
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| default for all languages | ID_255526264 |
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| English | Bardet-Biedl syndrome |
Bardet-Biedl syndrome is a ciliopathy with multisystem involvement that is characterised by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. |
