Joubert Syndrome 30; Jbts30

Clinical Features

Top most frequent phenotypes and symptoms related to Joubert Syndrome 30; Jbts30

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Delayed speech and language development
  • Polydactyly
  • Apnea
  • Abnormality of the eye
  • Abnormality of eye movement
  • Postaxial polydactyly

And another 8 symptoms. If you need more information about this disease we can help you.

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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.


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Joubert Syndrome 30; Jbts30 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
ARMC9.

By Fulgent Genetics Fulgent Genetics (United States).

ARMC9
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)

View the complete list with 239 more genes
Specificity
1 %
Genes
100 %
Joubert Syndrome Panel.

By Blueprint Genetics (Finland).

CEP41, CFAP410, TMEM237, ZNF423, KIAA0586, ARMC9, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Ciliopathy Panel.

By Blueprint Genetics (Finland).

SDCCAG8, CEP41, CFAP410, USP9X, ZIC3, ARL6, NEK8, IFT122, IFT81, TMEM237, PNPLA6, TRIM32, ZNF423, ACVR2B, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, CENPF , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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