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ARFGEF2

ADP ribosylation factor guanine nucleotide exchange factor 2

HCNC Approved Symbol
ARFGEF2 (HGNC:15853)
Genomic Coordinates
20:48,921,711 - 49,036,693 (20q13.13)
Synonyms
BIG2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Periventricular heterotopia with microcephaly
608097AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ARFGEF2 gene.

Frequently observed phenotypes

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

Epilepsy
 1 (100.0%)