Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Gene data from MyGene.info • Click to view on NCBI Gene
spondylocostal dysostosis 2, autosomal recessive
MONDO:0012097
spondylocostal dysostosis 3, autosomal recessive
MONDO:0012349
spondylocostal dysostosis 6, autosomal recessive
MONDO:0014694
spondylocostal dysostosis 1, autosomal recessive
MONDO:0020692