FKRP - Gene browser

FKRP

fukutin related protein

HCNC Approved Symbol: FKRP (HGNC:17997)
Genomic Coordinates: 19:46,744,760 - 46,758,575 (19q13.32)
Synonyms: LGMD2I, MDC1C, FKTR
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the FKRP gene.

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

011
Patient count

Myopathy: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Hypotonia: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Motor delay: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Elevated creatine kinase: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Gowers sign: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)