616541.1

Saudi Arabia

Bird-like facies; Triangular face; Convex nasal ridge; Short philtrum; Oligohydramnios; Delayed speech and language development

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003401.5:c.127T>C	2		Short Stature, Microcephaly, And Endocrine Dysfunction