Gene Symbol:
CHRND
HGNC:1965
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q37.1
Filters:

Strong classifications

congenital myasthenic syndrome 3A
Submitted as: OMIM:616321
AD
01/29/2021
Evaluated
03/31/2021
Submitted
congenital myasthenic syndrome 3C
Submitted as: OMIM:616323
AR
01/29/2021
Evaluated
03/31/2021
Submitted
congenital myasthenic syndrome 3B
Submitted as: OMIM:616322
AR
01/29/2021
Evaluated
03/31/2021
Submitted
congenital myasthenic syndrome 3A
Submitted as: OMIM:616321
AD
10/26/2020
Evaluated
12/30/2020
Submitted
congenital myasthenic syndrome 3B
Submitted as: OMIM:616322
AR
10/26/2020
Evaluated
12/30/2020
Submitted
congenital myasthenic syndrome 3A
Submitted as: OMIM:616321
AD
04/16/2021
Evaluated
11/30/2023
Submitted
congenital myasthenic syndrome 3C
Submitted as: OMIM:616323
AR
08/01/2019
Evaluated
11/30/2023
Submitted
lethal multiple pterygium syndrome
Submitted as: OMIM:253290
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Supportive classifications

lethal multiple pterygium syndrome
Submitted as: Orphanet:33108
AR
09/14/2021
Evaluated
09/14/2021
Submitted
postsynaptic congenital myasthenic syndrome
Submitted as: Orphanet:98913
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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