611174.1.1

Lebanon

Abnormal facial shape; Recurrent fractures; Intellectual disability, severe; Telecanthus; Dentinogenesis imperfecta

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005853.6:c.503G>A	2		Hamamy Syndrome

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
611174.1.2	Lebanon	Abnormal facial shape; Recurrent fractures; Intellectual disability, severe; Telecanthus; Dentinogenesis imperfecta	Male	Yes	Yes	First cousin once removed of 611174.1.1 Father had mild telecanthus