Joubert Syndrome 33; Jbts33

Description

Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Joubert Syndrome 33; Jbts33

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly
  • Apnea
  • Abnormality of the kidney
  • Retinal dystrophy
  • Renal cyst
  • Molar tooth sign on MRI

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 33; Jbts33 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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRIMETHYLAMINURIA; TMAU SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED

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