PCDH19 - Gene browser

PCDH19

protocadherin 19

HCNC Approved Symbol: PCDH19 (HGNC:14270)
Genomic Coordinates: 23:100,291,644 - 100,410,273 (Xq22.1)
Synonyms: KIAA1313, EIEE9, EFMR
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the PCDH19 gene.

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

015
Patient count

Epilepsy: 6 (40.0%)
Patient Count: 6 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (40.0%)
Autistic behavior: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Lax joints: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Attention deficit hyperactivity disorder: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)
Epileptic encephalopathy: 2 (13.3%)
Patient Count: 2 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (13.3%)