608681.1.2

Lebanon

Neonatal short-trunk short stature; Short neck

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001039958.2:c.500_503dup	2		Spondylocostal Dysostosis, Autosomal Recessive 2

sibling of the proband 608681.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608681.1.1	Lebanon	Neonatal short-trunk short stature; Short neck	Male	No	Yes
608681.1.3	Lebanon		Female	No		Healthy mother of the affected siblings 608681.1.1 and 608681.1.2.
608681.1.4	Lebanon		Male	No		Healthy father of the affected siblings 608681.1.1 and 608681.1.2.