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.
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
Learn moreSources and references
You can check the following sources for additional information.
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