Amish, Mennonite, and Hutterite
Genetic Disorder Database

Proximal symphalangism 1A

Disorder
OMIM #: #185800  (Click to access OMIM database)
Disorder: Proximal symphalangism 1A 
Also known as: SYM1 CUSHING SYMPHALANGISM HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS 
Clinical
Phenotype: ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, in some cases conductive deafness 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: NOG
Base Change: T>A, at nucleotide 122
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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