PAH - Gene browser

PAH

phenylalanine hydroxylase

HCNC Approved Symbol: PAH (HGNC:8582)
Genomic Coordinates: 12:102,836,889 - 102,958,441 (12q23.2)
Synonyms: PH
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

72Patients

In total, 72 patients were diagnosed with a variant in the PAH gene.

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

072
Patient count

Hyperphenylalaninemia: 13 (18.1%)
Patient Count: 13 (18.1%)
% of total patients presenting each phenotype is shown in parentheses.
13 (18.1%)
Autistic behavior: 10 (13.9%)
Patient Count: 10 (13.9%)
% of total patients presenting each phenotype is shown in parentheses.
10 (13.9%)
Mental retardation: 8 (11.1%)
Patient Count: 8 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
8 (11.1%)
Ketonuria: 7 (9.7%)
Patient Count: 7 (9.7%)
% of total patients presenting each phenotype is shown in parentheses.
7 (9.7%)
Epilepsy: 5 (6.9%)
Patient Count: 5 (6.9%)
% of total patients presenting each phenotype is shown in parentheses.
5 (6.9%)