Joint Laxity, Short Stature, And Myopia; Jlsm

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Joint Laxity, Short Stature, And Myopia; Jlsm

GZF1

View recommended genes panels

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.

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.

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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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