Gene Symbol:
ARX
HGNC:18060
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp21.3
Filters:

Definitive classifications

intellectual disability, X-linked, with or without seizures, arx-related
Submitted as: OMIM:300419
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Partington syndrome
Submitted as: OMIM:309510
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
developmental and epileptic encephalopathy
XL
06/04/2019
Evaluated
04/21/2024
Submitted
Partington syndrome
Submitted as: OMIM:309510
XL
07/22/2015
Evaluated
09/11/2023
Submitted
intellectual disability, X-linked, with or without seizures, arx-related
Submitted as: OMIM:300419
XL
07/22/2015
Evaluated
09/11/2023
Submitted
X-linked complex neurodevelopmental disorder
XL
12/01/2020
Evaluated
04/21/2024
Submitted

Strong classifications

X-linked lissencephaly with abnormal genitalia
Submitted as: OMIM:300215
XL
08/14/2018
Evaluated
03/02/2021
Submitted
X-linked lissencephaly with abnormal genitalia
Submitted as: OMIM:300215
XL
06/16/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

intellectual disability, X-linked, with or without seizures, arx-related
Submitted as: OMIM:300419
XL
08/14/2018
Evaluated
03/02/2021
Submitted
X-linked lissencephaly with abnormal genitalia
Submitted as: OMIM:300215
XL
01/29/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

West syndrome
Submitted as: Orphanet:3451
AD
09/14/2021
Evaluated
09/14/2021
Submitted
corpus callosum agenesis-abnormal genitalia syndrome
Submitted as: Orphanet:2508
XL
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked spasticity-intellectual disability-epilepsy syndrome
Submitted as: Orphanet:3175
XL
09/14/2021
Evaluated
09/14/2021
Submitted
developmental and epileptic encephalopathy
Submitted as: Orphanet:1934
AD
09/14/2021
Evaluated
09/14/2021
Submitted
X-linked lissencephaly with abnormal genitalia
Submitted as: Orphanet:452
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Partington syndrome
Submitted as: Orphanet:94083
XL
09/14/2021
Evaluated
09/14/2021
Submitted
infantile epileptic-dyskinetic encephalopathy
Submitted as: Orphanet:364063
XL
09/14/2021
Evaluated
09/14/2021
Submitted
non-syndromic X-linked intellectual disability
Submitted as: Orphanet:777
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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