GHR - Gene browser

GHR

growth hormone receptor

HCNC Approved Symbol: GHR (HGNC:4263)
Genomic Coordinates: 5:42,423,439 - 42,721,878 (5p13.1-p12)
Synonyms: GHBP
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the GHR gene.

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

09
Patient count

Dwarfism: 6 (66.7%)
Patient Count: 6 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (66.7%)
Severe short stature: 5 (55.6%)
Patient Count: 5 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
5 (55.6%)
Abnormal teeth: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Proportionate dwarfism: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Large teeth: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)