Joubert Syndrome 5; Jbts5

Clinical Features

Top most frequent phenotypes and symptoms related to Joubert Syndrome 5; Jbts5

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Rod-cone dystrophy
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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 5; Jbts5 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 %
CEP290 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
CEP290 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
100 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
Genes
100 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
17 %
Genes
100 %
CEP290 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CEP290
Specificity
100 %
Genes
100 %

We have 197 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC SCHNECKENBECKEN DYSPLASIA; SHNKND IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4 FAMILIAL MEDITERRANEAN FEVER; FMF HOLOPROSENCEPHALY 4; HPE4 DYSTONIA 12; DYT12

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