SR57

Stickler Syndrome (IIIE1)

Female

Female

SR57

Stickler Syndrome (IIIE1)

Female

Female

Highlighted Images

Age at visit: 65 years (Visit 2)
OD OS

Pedigree

Age at visit: 30 years
Age at visit: 30 years (Visit 2)
Age at visit: 53 years
Age at visit: 57 years
Age at visit: 57 years (Visit 2)
Age at visit: 58 years
Age at visit: 58 years (Visit 2)
Age at visit: 59 years
Age at visit: 60 years
Age at visit: 61 years
Age at visit: 65 years
Age at visit: 65 years (Visit 2)
Age at visit: 66 years
Age at visit: 69 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Stickler Syndrome COL2A1 Arg785Stop CGA>TGA   AD
Gene:
Allele 1:
Arg785Stop CGA>TGA
Allele 2:
 
Inheritance:
AD
Cite this case