Bardet-Biedl Syndrome 17 (BBS17)

Alias:
Bbs17
Bardet-Biedl Syndrome, Type 17
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome 17, also known as bbs17, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 17 is LZTFL1 (Leucine Zipper Transcription Factor Like 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
48
3

Medical Symptom

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Description
HPO Frequency
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No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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