Amish, Mennonite, and Hutterite
Genetic Disorder Database

Diastrophic dysplasia

Disorder
OMIM #: #222600  (Click to access OMIM database)
Disorder: Diastrophic dysplasia 
Also known as:  
Clinical
Phenotype: scoliosis, bilateral clubbed feet, malformed pinnae with calcification of the cartilage, premature calcification of the costal cartilages, cleft palate, deformity of first metacarpal - hitchhiker thumb 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: SLC26A2
Base Change: C>T, at nucleotide 835
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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