Spondylocostal Dysostosis 4, Autosomal Recessive; Scdo4

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 Spondylocostal Dysostosis 4, Autosomal Recessive; Scdo4

HES7

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylocostal Dysostosis 4, Autosomal Recessive; Scdo4

Short stature
Hydrocephalus
Pectus excavatum
Talipes
Situs inversus totalis
Spina bifida
Hemivertebrae
Spina bifida occulta
Dextrocardia
Short thorax

And another 10 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.

Spondylocostal Dysostosis 4, Autosomal Recessive; Scdo4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HES7 - Spondylocostal dysostosis 4, autosomal recessive. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). HES7 Specificity 100 % Genes 100 %
HES7. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HES7 Specificity 100 % Genes 100 %
HES7, MESP2, LFNG, DLL3. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HES7, DLL3, MESP2, LFNG Specificity 25 % Genes 100 %
Spondylocostal dysostosis 4, AR (sequence analysis of HES7 gene). By CGC Genetics (Portugal). HES7 Specificity 100 % Genes 100 %
Spondylocostal dysostosis (NGS panel of 6 genes). By CGC Genetics (Portugal). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %
Spondylocostal dysostosis (NGS panel of 6 genes). By CGC Genetics (Portugal). TBX6, HES7, RIPPLY2, DLL3, MESP2, LFNG Specificity 17 % Genes 100 %
HES7-Related Spondylocostal Dysostosis, Autosomal Recessive. By Exeter Molecular Genetics Laboratory (United Kingdom). HES7 Specificity 100 % Genes 100 %
Spondylocostal Dysostosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TBX6, HES7, DLL3, MESP2, LFNG Specificity 20 % Genes 100 %

You can get up to 16 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOTRICHOSIS 8; HYPT8 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W; LGMD2W OBESITY