231070.G.1

Saudi Arabia

Cutis laxa; Joint laxity; Abnormal heart morphology; Osteopenia; Recurrent fractures; Wormian bones

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_152281.3:c.231dup	8	NA	Geroderma Osteodysplasticum

Four related patients