Joint Laxity, Short Stature, And Myopia; Jlsm

Clinical Features

Top most frequent phenotypes and symptoms related to Joint Laxity, Short Stature, And Myopia; Jlsm

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus
  • Kyphosis
  • Glaucoma
  • Proptosis
  • Kyphoscoliosis
  • Joint laxity

And another 12 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.

Joint Laxity, Short Stature, And Myopia; Jlsm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Desbuquois dysplasia and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
Desbuquois dysplasia and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 %
GZF1.

By Fulgent Genetics Fulgent Genetics (United States).

GZF1
Specificity
100 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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