Bardet-biedl Syndrome 8; Bbs8
Description
BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).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 8; Bbs8
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Cognitive impairment
- Obesity
- Hypospadias
- Rod-cone dystrophy
- Hypogonadism
- Brachycephaly
- Polydactyly
And another 7 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 8; Bbs8 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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 % |
TTC8 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TTC8
Specificity
100 %
Genes
100 % |
TTC8 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TTC8
Specificity
100 %
Genes
100 % |
TTC8 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TTC8
Specificity
100 %
Genes
100 % |
TTC8 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
TTC8
Specificity
100 %
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 % |
Ciliopathies.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
You can get up to 86 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 3; VWD3 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 CHROMOSOME 16p13.2 DELETION SYNDROME DIABETES MELLITUS, PERMANENT NEONATAL; PNDM AICARDI-GOUTIERES SYNDROME 6; AGS6 CRANIOSYNOSTOSIS 6; CRS6