DDX3X - Gene browser

DDX3X

DEAD-box helicase 3 X-linked

HCNC Approved Symbol: DDX3X (HGNC:2745)
Genomic Coordinates: 23:41,333,308 - 41,364,472 (Xp11.4)
Synonyms: DBX, HLP2, DDX14, CAP-Rf, DDX3
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

29Patients

In total, 29 patients were diagnosed with a variant in the DDX3X gene.

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

029
Patient count

Global developmental delay: 11 (37.9%)
Patient Count: 11 (37.9%)
% of total patients presenting each phenotype is shown in parentheses.
11 (37.9%)
Intellectual disability: 9 (31.0%)
Patient Count: 9 (31.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (31.0%)
Microcephaly: 8 (27.6%)
Patient Count: 8 (27.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (27.6%)
Developmental delay: 6 (20.7%)
Patient Count: 6 (20.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (20.7%)
Facial dysmorphism: 4 (13.8%)
Patient Count: 4 (13.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (13.8%)