Gene Symbol:
PYCR1
HGNC:9721
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q25.3
Filters:

Autosomal recessive cutis laxa type 2B classifications

autosomal recessive cutis laxa type 2B
Submitted as: OMIM:612940
AR
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal recessive cutis laxa type 2B
Submitted as: OMIM:612940
AR
10/08/2020
Evaluated
11/09/2020
Submitted
autosomal recessive cutis laxa type 2B
Submitted as: OMIM:612940
AR
03/04/2020
Evaluated
03/31/2021
Submitted
autosomal recessive cutis laxa type 2B
Submitted as: OMIM:612940
AR
12/15/2018
Evaluated
11/30/2023
Submitted
autosomal recessive cutis laxa type 2B
Submitted as: Orphanet:357064
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive cutis laxa type 2B
AR
05/21/2020
Evaluated
04/21/2024
Submitted

Geroderma osteodysplastica classifications

geroderma osteodysplastica
Submitted as: Orphanet:2078
AR
09/14/2021
Evaluated
09/14/2021
Submitted

PYCR1-related de Barsy syndrome classifications

PYCR1-related de Barsy syndrome
Submitted as: OMIM:614438
AR
10/08/2020
Evaluated
11/09/2020
Submitted
PYCR1-related de Barsy syndrome
Submitted as: OMIM:614438
AR
03/04/2020
Evaluated
03/31/2021
Submitted
PYCR1-related de Barsy syndrome
Submitted as: OMIM:614438
AR
08/31/2018
Evaluated
03/02/2021
Submitted

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