265000.4.2

Lebanon

Arthrogryposis multiplex congenita; Pterygium; Short stature; Abnormal facial shape; High palate; Arachnodactyly

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005199.5:c.1249G>C	2		Multiple Pterygium Syndrome, Escobar Variant

Sister of 265000.4.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
265000.4.1	Lebanon	Decreased fetal movement; Arthrogryposis multiplex congenita; Pterygium; Short stature; Abnormal facial shape; High palate; Arachnodactyly; Cryptorchidism	Male	Yes	Yes	Proband. He also had an affected younger brother who was deceased.