108300.3

Saudi Arabia

Inflammatory abnormality of the skin; Finger swelling

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001844.5:c.2818C>T	1	NA	Stickler Syndrome, Type I

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
108300.1	Saudi Arabia	Tractional retinal detachment	Male		Yes	De novo mutation
108300.2	Saudi Arabia	Disproportionate short stature; Scoliosis; Metaphyseal dysplasia; Inguinal hernia; Myopia	Male		Yes	De novo mutation