FHL1 - Gene browser

FHL1

four and a half LIM domains 1

HCNC Approved Symbol: FHL1 (HGNC:3702)
Genomic Coordinates: 23:136,146,702 - 136,211,359 (Xq26.3)
Synonyms: SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the FHL1 gene.

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

06
Patient count

Proximal muscle weakness: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Bilateral ptosis: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Blepharophimosis: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Downslanted palpebral fissures: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Dysmorphic facial features: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)