FGFR3 - Gene browser

FGFR3

fibroblast growth factor receptor 3

HCNC Approved Symbol: FGFR3 (HGNC:3690)
Genomic Coordinates: 4:1,793,293 - 1,808,867 (4p16.3)
Synonyms: CEK2, JTK4, CD333, ACH
Disease Associations: This gene is associated with the following 14 diseases in OMIM.

Diagnosed Cases

60Patients

In total, 60 patients were diagnosed with a variant in the FGFR3 gene.

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

060
Patient count

Short stature: 25 (41.7%)
Patient Count: 25 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
25 (41.7%)
Short limbs: 13 (21.7%)
Patient Count: 13 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
13 (21.7%)
Macrocephaly: 7 (11.7%)
Patient Count: 7 (11.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (11.7%)
Brachydactyly: 7 (11.7%)
Patient Count: 7 (11.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (11.7%)
Frontal bossing: 7 (11.7%)
Patient Count: 7 (11.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (11.7%)