Gene Symbol:
MYBPC1
HGNC:7549
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q23.2
Filters:

Arthrogryposis, distal, type 1B classifications

arthrogryposis, distal, type 1B
Submitted as: OMIM:614335
AD
11/26/2020
Evaluated
11/30/2023
Submitted
arthrogryposis, distal, type 1B
Submitted as: OMIM:614335
AD
08/21/2023
Evaluated
01/02/2024
Submitted

Digitotalar dysmorphism classifications

digitotalar dysmorphism
Submitted as: Orphanet:1146
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Lethal congenital contracture syndrome 3 classifications

lethal congenital contracture syndrome 3
Submitted as: Orphanet:137783
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Lethal congenital contracture syndrome 4 classifications

lethal congenital contracture syndrome 4
Submitted as: OMIM:614915
AR
07/16/2020
Evaluated
09/11/2023
Submitted
lethal congenital contracture syndrome 4
Submitted as: OMIM:614915
AR
04/09/2020
Evaluated
11/30/2023
Submitted
lethal congenital contracture syndrome 4
Submitted as: OMIM:614915
AR
08/21/2023
Evaluated
01/02/2024
Submitted

Myopathy, congenital, with tremor classifications

myopathy, congenital, with tremor
Submitted as: OMIM:618524
AD
08/22/2023
Evaluated
01/02/2024
Submitted
myopathy, congenital, with tremor
Submitted as: OMIM:618524
AD
08/27/2021
Evaluated
11/30/2023
Submitted

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