FBN2 - Gene browser

FBN2

fibrillin 2

HCNC Approved Symbol: FBN2 (HGNC:3604)
Genomic Coordinates: 5:128,257,909 - 128,538,245 (5q23.3)
Synonyms: DA9, CCA
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the FBN2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

021
Patient count

Retinitis pigmentosa: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Arachnodactyly: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Pes planus: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)
Joint contractures: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)
Scoliosis: 3 (14.3%)
Patient Count: 3 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (14.3%)