Gene Symbol:
NEB
HGNC:7720
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q23.3
Filters:

Childhood-onset nemaline myopathy classifications

childhood-onset nemaline myopathy
Submitted as: Orphanet:171439
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Intermediate nemaline myopathy classifications

intermediate nemaline myopathy
Submitted as: Orphanet:171433
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Lethal multiple pterygium syndrome classifications

lethal multiple pterygium syndrome
Submitted as: Orphanet:33108
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Nemaline myopathy 2 classifications

nemaline myopathy 2
Submitted as: OMIM:256030
AR
07/22/2015
Evaluated
09/11/2023
Submitted
nemaline myopathy 2
Submitted as: OMIM:256030
AD
03/16/2023
Evaluated
08/19/2023
Submitted
nemaline myopathy 2
AR
10/21/2019
Evaluated
10/18/2023
Submitted
nemaline myopathy 2
Submitted as: OMIM:256030
AR
05/27/2021
Evaluated
11/30/2023
Submitted

Severe congenital nemaline myopathy classifications

severe congenital nemaline myopathy
Submitted as: Orphanet:171430
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Typical nemaline myopathy classifications

typical nemaline myopathy
Submitted as: Orphanet:171436
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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