PRKD1 - Gene browser

PRKD1

protein kinase D1

HCNC Approved Symbol: PRKD1 (HGNC:9407)
Genomic Coordinates: 14:29,576,479 - 29,927,847 (14q12)
Synonyms: PKCM, PKD, PKC-mu, PRKCM
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the PRKD1 gene.

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

02
Patient count

Broad thumbs: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Broad toes: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Bulbous nasal tip: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Intellectual disability: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Patent ductus arteriosus: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)