PTCHD1 - Gene browser | 3billion

PTCHD1

PTCHD1

patched domain containing 1

HCNC Approved Symbol: PTCHD1 (HGNC:26392)
Genomic Coordinates: 23:23,334,396 - 23,404,374 (Xp22.11)
Synonyms: FLJ30296
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the PTCHD1 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Autism: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Intellectual disability: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Epilepsy: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

PTCHD1 - Gene browser | 3billion