Gene Symbol:
MYH3
HGNC:7573
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17p13.1
Filters:

Definitive classifications

Freeman-Sheldon syndrome
Submitted as: OMIM:193700
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

contractures, pterygia, and variable skeletal fusions syndrome 1B
Submitted as: OMIM:618469
AR
09/08/2022
Evaluated
11/30/2023
Submitted
distal arthrogryposis type 2B1
Submitted as: OMIM:601680
AD
05/11/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

Freeman-Sheldon syndrome
Submitted as: OMIM:193700
AD
01/12/2018
Evaluated
03/02/2021
Submitted
contractures, pterygia, and variable skeletal fusions syndrome 1B
Submitted as: OMIM:618469
AR
06/07/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

digitotalar dysmorphism
Submitted as: Orphanet:1146
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Sheldon-hall syndrome
Submitted as: Orphanet:1147
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Freeman-Sheldon syndrome
Submitted as: Orphanet:2053
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive multiple pterygium syndrome
Submitted as: Orphanet:2990
AR
09/14/2021
Evaluated
09/14/2021
Submitted
spondylocarpotarsal synostosis syndrome
Submitted as: Orphanet:3275
AR
09/14/2021
Evaluated
09/14/2021
Submitted
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
Submitted as: Orphanet:65743
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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