227260.G.1

Oman

Abnormality of the chin; Absent lower eyelashes; Bitemporal forceps marks; Abnormal hair pattern

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_057179.3:c.193C>T	4		Focal Facial Dermal Dysplasia 3, Setleis Type

Two affected first cousins from a consanguineous family