130070.1.1

Qatar

Abnormal facial shape; Global developmental delay; Hypermobility of interphalangeal joints; Radioulnar synostosis; Short clavicles; Osteopenia

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_007255.3:c.808C>T	2		Ehlers-Danlos syndrome, spondylodysplastic type, 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
130070.1.2	Qatar	Abnormal facial shape; Global developmental delay; Hypermobility of interphalangeal joints; Radioulnar synostosis; Short clavicles; Osteopenia; Equinovarus deformity	Male	Yes	Yes	Paternal uncle of 130070.1.1