Gene Symbol:
HSPG2
HGNC:5273
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1p36.12
Filters:

Schwartz-Jampel syndrome classifications

Schwartz-Jampel syndrome
Submitted as: Orphanet:800
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Schwartz-Jampel syndrome type 1 classifications

Schwartz-Jampel syndrome type 1
AR
05/21/2022
Evaluated
10/18/2023
Submitted
Schwartz-Jampel syndrome type 1
Submitted as: OMIM:255800
AR
06/03/2018
Evaluated
09/11/2023
Submitted
Schwartz-Jampel syndrome type 1
Submitted as: OMIM:255800
AR
03/18/2021
Evaluated
11/30/2023
Submitted

Silverman-Handmaker type dyssegmental dysplasia classifications

Silverman-Handmaker type dyssegmental dysplasia
Submitted as: OMIM:224410
AR
07/22/2015
Evaluated
09/11/2023
Submitted
Silverman-Handmaker type dyssegmental dysplasia
Submitted as: Orphanet:1865
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Silverman-Handmaker type dyssegmental dysplasia
AR
05/21/2022
Evaluated
10/18/2023
Submitted
Silverman-Handmaker type dyssegmental dysplasia
Submitted as: OMIM:224410
AR
05/20/2021
Evaluated
11/30/2023
Submitted

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