Amish, Mennonite, and Hutterite
Genetic Disorder Database

Albinism, oculocutaneous, type II

Disorder
OMIM #: #203200  (Click to access OMIM database)
Disorder: Albinism, oculocutaneous, type II 
Also known as:  
Clinical
Phenotype: decreased visual acuity, nystagmus, variable pigmentation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: OCA2
Base Change: A>G, at nucleotide 823
Amino Acid Change:
2   Old Order Mennonite  
Gene: OCA2
Base Change: G>T, at nucleotide 2433
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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