GDF5 - Gene browser

GDF5

growth differentiation factor 5

HCNC Approved Symbol: GDF5 (HGNC:4220)
Genomic Coordinates: 20:35,433,347 - 35,454,749 (20q11.22)
Synonyms: CDMP1, BMP14
Disease Associations: This gene is associated with the following 9 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the GDF5 gene.

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

06
Patient count

Brachydactyly: 4 (66.7%)
Patient Count: 4 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (66.7%)
Short stature: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Laryngomalacia: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Micrognathia: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Poor sucking: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)