108300.2

Saudi Arabia

Disproportionate short stature; Scoliosis; Metaphyseal dysplasia; Inguinal hernia; Myopia

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001844.5:c.3023G>T	1	NA	Stickler Syndrome, Type I

De novo mutation

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
108300.3	Saudi Arabia	Inflammatory abnormality of the skin; Finger swelling	Male		No