Bardet-biedl Syndrome 21; Bbs21
Description
BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Bardet-biedl Syndrome 21; Bbs21
- Cognitive impairment
- Delayed speech and language development
- Myopia
- Blindness
- Abnormality of the dentition
- Obesity
- Rod-cone dystrophy
- Polydactyly
- Elevated hepatic transaminase
- Retinal degeneration
And another 14 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Bardet-biedl Syndrome 21; Bbs21 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
C8ofr37 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
C8orf37
Specificity
100 %
Genes
100 % |
C8ofr37 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
C8orf37
Specificity
100 %
Genes
100 % |
C8orf37 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
C8orf37
Specificity
100 %
Genes
100 % |
C8orf37 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
C8orf37
Specificity
100 %
Genes
100 % |
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
Bardet-Biedl Syndrome Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SDCCAG8, ARL6, TRIM32, IFT27, BBS7, TTC8, INPP5E, ADIPOR1, BBS10, BBS12, C8orf37, WDPCP, BBIP1, CCDC28B, TMEM67, CEP290, BBS9, KCNJ13, LZTFL1, MKKS , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
You can get up to 46 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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