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EFEMP2

EGF containing fibulin extracellular matrix protein 2

HCNC Approved Symbol
EFEMP2 (HGNC:3219)
Genomic Coordinates
11:65,866,441 - 65,872,800 (11q13.1)
Synonyms
FBLN4, UPH1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cutis laxa, autosomal recessive, type IB
614437AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the EFEMP2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results