Epiphyseal Dysplasia, Multiple, 7; Edm7
Clinical Features
Top most frequent phenotypes and symptoms related to Epiphyseal Dysplasia, Multiple, 7; Edm7
- Scoliosis
- Platyspondyly
- Joint dislocation
- Genu varum
- Abnormality of the hand
- Epiphyseal dysplasia
- Short femoral neck
- Beaking of vertebral bodies
- Multiple epiphyseal dysplasia
- Small epiphyses
And another 2 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.Epiphyseal Dysplasia, Multiple, 7; Edm7 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
Optic Atrophy and Early Glaucoma Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
CANT1 - Desbuquois syndrome.
By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
CANT1
Specificity
100 %
Genes
100 % |
CANT1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CANT1
Specificity
100 %
Genes
100 % |
Desbuquois syndrome (sequence analysis of CANT1 gene).
By CGC Genetics (Portugal).
CANT1
Specificity
100 %
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 % |
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 % |
You can get up to 34 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TAKENOUCHI-KOSAKI SYNDROME; TKS MENTAL RETARDATION, X-LINKED 102; MRX102 AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; SEMDG ACHONDROGENESIS TYPE 2