Gene Symbol:
DDX3X
HGNC:2745
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.4
Filters:

Intellectual disability, X-linked 102 classifications

intellectual disability, X-linked 102
Submitted as: OMIM:300958
XLR
11/21/2019
Evaluated
11/25/2020
Submitted
intellectual disability, X-linked 102
Submitted as: OMIM:300958
XL
03/05/2018
Evaluated
03/02/2021
Submitted
intellectual disability, X-linked 102
Submitted as: OMIM:300958
XL
07/05/2023
Evaluated
11/30/2023
Submitted
intellectual disability, X-linked 102
Submitted as: OMIM:300958
XL
11/21/2019
Evaluated
09/11/2023
Submitted

Toriello-Carey syndrome classifications

Toriello-Carey syndrome
Submitted as: Orphanet:3338
AR
09/14/2021
Evaluated
09/14/2021
Submitted

X-linked intellectual disability-hypotonia-movement disorder syndrome classifications

X-linked intellectual disability-hypotonia-movement disorder syndrome
Submitted as: Orphanet:457260
XL
09/14/2021
Evaluated
09/14/2021
Submitted

X-linked syndromic intellectual disability classifications

X-linked syndromic intellectual disability
XL
07/26/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The DDX3X gene is located on chromosome X at Xp11.4 and encodes the DEAD-box helicase 3 X-linked pro... Read more
X-linked syndromic intellectual disability
XL
05/05/2020
Evaluated
04/21/2024
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.