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GDF6

growth differentiation factor 6

HCNC Approved Symbol
GDF6 (HGNC:4221)
Genomic Coordinates
8:96,142,333 - 96,160,806 (8q22.1)
Synonyms
BMP13, KFS, KFS1, SGM1
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Klippel-Feil syndrome 1, autosomal dominant
118100AD
Leber congenital amaurosis 17
615360AR
Microphthalmia with coloboma 6, digenic
613703AD
Microphthalmia, isolated 4
613094-
Multiple synostoses syndrome 4
617898AD

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the GDF6 gene.

Frequently observed phenotypes

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

Facial asymmetry
 1 (100.0%)
Neurosensory hearing impairment
 1 (100.0%)