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FGD1

FYVE, RhoGEF and PH domain containing 1

HCNC Approved Symbol
FGD1 (HGNC:3663)
Genomic Coordinates
23:54,445,454 - 54,496,234 (Xp11.22)
Synonyms
ZFYVE3, FGDY
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the FGD1 gene.

Frequently observed phenotypes

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

Hypertelorism
 3 (42.9%)
Frontal bossing
 2 (28.6%)
Ptosis
 2 (28.6%)
Shawl scrotum
 2 (28.6%)
Short nose
 2 (28.6%)
FGD1 - Gene browser | 3billion