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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Bardet-biedl Syndrome 21; Bbs21 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

We have 46 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more