Amish, Mennonite, and Hutterite
Genetic Disorder Database

Osteogenesis imperfecta, type VIII

Disorder
OMIM #: #610915  (Click to access OMIM database)
Disorder: Osteogenesis imperfecta, type VIII 
Also known as: OI, TYPE VIII  
Clinical
Phenotype: bone fragility, low bone mass, white sclerae, severe growth deficiency, extreme skeletal undermineralization, bulbous metaphyses 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: P3H1
Base Change: C>T, at nucleotide 1460
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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