108300.1

Oman

Tractional retinal detachment

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001844.5:c.1993C>T	1	NA	Stickler Syndrome, Type I

De novo mutation

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
108300.2	Oman	Disproportionate short stature; Scoliosis; Metaphyseal dysplasia; Inguinal hernia; Myopia	Male		Yes	De novo mutation
108300.3	Oman	Inflammatory abnormality of the skin; Finger swelling	Male		No