Bardet-Biedl syndrome (Q94128): Difference between revisions
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15 August 2026
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Latest 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 |
|---|---|---|---|
| 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. |
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CID11:ID_255526264
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dki-india-ID_255526264
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Concluído
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15 August 2026
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