Gene Symbol:
EFEMP2
HGNC:3219
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q13.1
Filters:

Autosomal recessive cutis laxa type 1 classifications

autosomal recessive cutis laxa type 1
Submitted as: Orphanet:90349
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Cutis laxa, autosomal recessive, type 1B classifications

cutis laxa, autosomal recessive, type 1B
Submitted as: OMIM:614437
AR
10/08/2020
Evaluated
11/09/2020
Submitted
cutis laxa, autosomal recessive, type 1B
Submitted as: OMIM:614437
AR
03/04/2020
Evaluated
03/31/2021
Submitted
cutis laxa, autosomal recessive, type 1B
Submitted as: OMIM:614437
AR
08/29/2018
Evaluated
03/02/2021
Submitted
cutis laxa, autosomal recessive, type 1B
Submitted as: OMIM:614437
AR
08/30/2019
Evaluated
11/30/2023
Submitted

Familial thoracic aortic aneurysm and aortic dissection classifications

familial thoracic aortic aneurysm and aortic dissection
AR
12/22/2016
Evaluated
04/21/2024
Submitted

Lethal arteriopathy syndrome due to fibulin-4 deficiency classifications

lethal arteriopathy syndrome due to fibulin-4 deficiency
Submitted as: Orphanet:314718
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Thoracic aortic aneurysm classifications

thoracic aortic aneurysm
AD
01/17/2024
Evaluated
01/17/2025
Submitted

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