Gene Symbol:
USP9X
HGNC:12632
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.4
Filters:

Definitive classifications

intellectual disability, X-linked 99
Submitted as: OMIM:300919
XL
11/21/2019
Evaluated
09/11/2023
Submitted
intellectual disability, X-linked 99
Submitted as: OMIM:300919
XLR
11/21/2019
Evaluated
11/25/2020
Submitted
X-linked syndromic intellectual disability
XL
11/17/2021
Evaluated
04/21/2024
Submitted

Strong classifications

intellectual disability, X-linked 99
Submitted as: OMIM:300919
XLD
07/22/2015
Evaluated
11/25/2020
Submitted
intellectual disability, X-linked 99
Submitted as: OMIM:300919
XL
01/29/2021
Evaluated
03/31/2021
Submitted
intellectual disability, X-linked 99, syndromic, female-restricted
Submitted as: OMIM:300968
XL
01/29/2021
Evaluated
03/31/2021
Submitted
intellectual disability, X-linked 99, syndromic, female-restricted
Submitted as: OMIM:300968
XL
10/14/2022
Evaluated
11/30/2023
Submitted
intellectual disability, X-linked 99
Submitted as: OMIM:300919
XL
01/26/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

non-syndromic X-linked intellectual disability
Submitted as: Orphanet:777
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Submitted as: Orphanet:480880
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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