214300.2.3

Saudi Arabia

Short neck; Decreased cervical spine mobility

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004527.4:c.94del	2		Klippel-Feil Syndrome 2, Autosomal Recessive

Second cousin, once-removed of 214300.2.1. (Has a similarly affected sister whose DNA was not available for testing)

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
214300.2.1	Saudi Arabia	Short neck; Decreased cervical spine mobility; Sprengel anomaly; Cervical C2/C3 vertebral fusion	Female	Yes	Yes	Index patient of a large multiplex Saudi family
214300.2.2	Saudi Arabia	Short neck; Decreased cervical spine mobility	Female	Yes	Yes	Great-aunt of 214300.2.1. Had a similarly-affected deceased brother.