WDR45 - Gene browser

WDR45

WD repeat domain 45

HCNC Approved Symbol: WDR45 (HGNC:28912)
Genomic Coordinates: 23:49,074,442 - 49,101,178 (Xp11.23)
Synonyms: JM5, WIPI4, NBIA5, WDRX1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

21Patients

In total, 21 patients were diagnosed with a variant in the WDR45 gene.

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

021
Patient count

Global developmental delay: 5 (23.8%)
Patient Count: 5 (23.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (23.8%)
Intellectual disability: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Global development delay: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Delayed gross motor development: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)
Developmental delay: 4 (19.0%)
Patient Count: 4 (19.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (19.0%)