Bardet-Biedl Syndrome 16 (BBS16)

Bardet-Biedl Syndrome 16(来自ICD-11)
别称:
Bbs16
Bardet-Biedl Syndrome, Type 16
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Bardet-Biedl Syndrome 16, also known as bbs16, is related to senior-loken syndrome 7 and mckusick-kaufman syndrome, and has symptoms including respiratory distress An important gene associated with Bardet-Biedl Syndrome 16 is SDCCAG8 (SHH Signaling And Ciliogenesis Regulator SDCCAG8), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliopathies. Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and global developmental delay
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MALACARDS
AR
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7
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8

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