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IGF1R

insulin like growth factor 1 receptor

HCNC Approved Symbol
IGF1R (HGNC:5465)
Genomic Coordinates
15:98,648,539 - 98,964,530 (15q26.3)
Synonyms
JTK13, CD221, IGFIR, MGC18216, IGFR
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the IGF1R gene.

Frequently observed phenotypes

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

Severe short stature
 2 (28.6%)
Failure to thrive
 2 (28.6%)
Small for gestational age
 2 (28.6%)
Global development delay
 2 (28.6%)
Delayed bone age
 
1 (14.3%)
IGF1R - Gene browser | 3billion