Short-rib Thoracic Dysplasia 13 With Or Without Polydactyly; Srtd13

Clinical Features

Top most frequent phenotypes and symptoms related to Short-rib Thoracic Dysplasia 13 With Or Without Polydactyly; Srtd13

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia
  • Midface retrusion
  • Patent ductus arteriosus
  • Cerebellar hypoplasia
  • Polydactyly
  • Respiratory failure

And another 40 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Short-rib Thoracic Dysplasia 13 With Or Without Polydactyly; Srtd13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago (United States).

CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes).

By CGC Genetics (Portugal).

IFT122, WDR19, EVC2, WDR60, TTC21B, CSPP1, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
7 %
Genes
100 %
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 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Skeletal dysplasia ciliopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
6 %
Genes
100 %
Skeletal dysplasia ciliopathy NGS panel.

By Connective Tissue Gene Tests (United States).

CFAP410, IFT122, IFT52, WDR19, EVC2, KIAA0586, WDR60, DYNC2LI1, TTC21B, CEP120, WDR34, IFT140, WDR35, IFT80, DYNC2H1, IFT43, IFT172, EVC, NEK1
Specificity
6 %
Genes
100 %

You can get up to 15 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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