Joubert Syndrome With Oculorenal Defect

Description

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Joubert Syndrome With Oculorenal Defect

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay
  • Nystagmus
  • Strabismus
  • Muscular hypotonia

And another 68 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.
— The onset for some of the known clinical features related to this disease may vary, including juvenile onset, and childhood onset .

Alternative names

Joubert Syndrome With Oculorenal Defect Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia, arima syndrome, js-or, js type b, cerebellooculorenal syndrome, joubert syndrome with senior-loken syndrome, cors, joubert syndrome with bilateral chorioretinal coloboma, cerebrooculohepatorenal syndrome, de.

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 With Oculorenal Defect 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
29 %
CEP290 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
15 %
CEP290 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
15 %
CEP290 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
15 %
CEP290 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CEP290
Specificity
100 %
Genes
15 %
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
15 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

AHI1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP1
Specificity
50 %
Genes
43 %
CEP290 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CEP290
Specificity
100 %
Genes
15 %

We have 276 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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