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GDF3

growth differentiation factor 3

HCNC Approved Symbol
GDF3 (HGNC:4218)
Genomic Coordinates
12:7,689,784 - 7,695,775 (12p13.31)
Synonyms
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Klippel-Feil syndrome 3, autosomal dominant
613702-
Microphthalmia, isolated 7
613704AD
Microphthalmia, isolated, with coloboma 6
613703AD

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the GDF3 gene.

Frequently observed phenotypes

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

Absent kidney on one side
 1 (100.0%)
Cervical spine fusion
 1 (100.0%)
Disproportionate short stature
 1 (100.0%)
Low posterior hairline
 1 (100.0%)
Sprengel deformity
 1 (100.0%)