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FGFR2

fibroblast growth factor receptor 2

HCNC Approved Symbol
FGFR2 (HGNC:3689)
Genomic Coordinates
10:121,478,330 - 121,598,458 (10q26.13)
Synonyms
CEK3, TK14, TK25, ECT1, K-SAM, CD332, KGFR, BEK, CFD1, JWS
Disease Associations
This gene is associated with the following 14 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Scaphocephaly, maxillary retrusion, and impaired intellectual development
609579-
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
207410AD
Apert syndrome
101200AD
Beare-Stevenson cutis gyrata syndrome
123790AD
Bent bone dysplasia syndrome
614592AD
Craniofacial-skeletal-dermatologic dysplasia
101600AD
Craniosynostosis, nonspecific
--
Crouzon syndrome
123500AD
Gastric cancer, somatic
613659-
Jackson-Weiss syndrome
123150AD
LADD syndrome 1
149730AD
Pfeiffer syndrome
101600AD
Saethre-Chotzen syndrome
101400AD
Scaphocephaly and Axenfeld-Rieger anomaly
--

Diagnosed Cases

29Patients

In total, 29 patients were diagnosed with a variant in the FGFR2 gene.

Frequently observed phenotypes

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

Craniosynostosis
 8 (27.6%)
Proptosis
 6 (20.7%)
Hypertelorism
 5 (17.2%)
Global developmental delay
 5 (17.2%)
Syndactyly
 5 (17.2%)