609813.1.1

Lebanon

Arachnodactyly; Camptodactyly of finger; Abnormally ossified vertebrae; Relatively short spine

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001040167.2:c.564C>A	2		Spondylocostal Dysostosis 3, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
609813.1.2	Lebanon		Female	No		Healthy mother of the affected proband 609813.1.1.
609813.1.3	Lebanon		Male	No		Healthy father of the affected proband 609813.1.1.