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GENATLAS PHENOTYPE

last update : 10-10-2016

Symbol	SCDO6
Location	6q14.2
Name	Spondylocostal dysostosis 6
Corresponding gene	RIPPLY2
Main clinical features	segmentation defects of the vertebrae with failure of formation of the posterior elements of C1 to C5 with descent of the occipital bone, causing spinal canal stenosis and spinal cord compression also hemivertebrae and butterfly vertebrae, resulting in thoracic scoliosis
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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