Bardet-Biedl Syndrome 22 (BBS22)

Alias:
Bbs22
Bardet-Biedl Syndrome 20, Formerly
Bardet-Biedl Syndrome, Type 20
Bbs20, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bardet-Biedl Syndrome 22, also known as bbs22, is related to bardet-biedl syndrome and bardet-biedl syndrome 19. An important gene associated with Bardet-Biedl Syndrome 22 is IFT74 (Intraflagellar Transport 74), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include heart, and related phenotypes are macrocephaly and delayed speech and language development
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
15
4

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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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