Amish, Mennonite, and Hutterite
Genetic Disorder Database

Fraser syndrome

Disorder
OMIM #: #219000  (Click to access OMIM database)
Disorder: Fraser syndrome 
Also known as: Cryptophthalmos with other malformations 
Clinical
Phenotype: cryptophthalmos; cutaneous syndactyly; genitourinary anomalies, including renal agenesis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: FRAS1
Base Change: c.748_758del11
Amino Acid Change: Frame shift
Last updated: 2018-04-19 

References

Back