PHF6 - Gene browser

PHF6

PHD finger protein 6

HCNC Approved Symbol: PHF6 (HGNC:18145)
Genomic Coordinates: 23:134,373,312 - 134,428,790 (Xq26.2)
Synonyms: KIAA1823, MGC14797, CENP-31, BFLS, BORJ
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the PHF6 gene.

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

03
Patient count

Global developmental delay: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Ectopic kidney: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Hypotonia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Ptosis: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Single umbilical artery: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)