Gene Symbol:
DYNC2H1
HGNC:2962
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q22.3
Filters:

Definitive classifications

asphyxiating thoracic dystrophy 3
Submitted as: OMIM:613091
AR
07/22/2015
Evaluated
09/11/2023
Submitted
asphyxiating thoracic dystrophy 3
Submitted as: OMIM:613091
AR
01/12/2018
Evaluated
03/02/2021
Submitted

Strong classifications

asphyxiating thoracic dystrophy 3
Submitted as: OMIM:613091
AR
08/03/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Jeune syndrome
Submitted as: Orphanet:474
AR
09/14/2021
Evaluated
09/14/2021
Submitted
short rib-polydactyly syndrome, Majewski type
Submitted as: Orphanet:93269
AR
09/14/2021
Evaluated
09/14/2021
Submitted
asphyxiating thoracic dystrophy 3
Submitted as: Orphanet:93270
AR
09/14/2021
Evaluated
09/14/2021
Submitted
short rib-polydactyly syndrome, Verma-Naumoff type
Submitted as: Orphanet:93271
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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