Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3

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 3, Autosomal Recessive; Scdo3

LFNG

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Clinical Features

Phenotypes and symptoms related to Spondylocostal Dysostosis 3, Autosomal Recessive; Scdo3

Scoliosis
Camptodactyly
Arachnodactyly
Abnormal vertebral morphology
Vertebral segmentation defect
Slender finger
Supernumerary vertebral ossification centers

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 3, Autosomal Recessive; Scdo3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LFNG - Spondylocostal dysostosis 3. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). LFNG Specificity 100 % Genes 100 %
LFNG. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). LFNG 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 type 3 AR (sequence analysis of LFNG gene). By CGC Genetics (Portugal). LFNG 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 %
LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive. By Exeter Molecular Genetics Laboratory (United Kingdom). LFNG Specificity 100 % Genes 100 %
Spondylocostal Dysostosis via LFNG Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). LFNG 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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