Amish, Mennonite, and Hutterite
Genetic Disorder Database

Knobloch syndrome 1

Disorder
OMIM #: #267750  (Click to access OMIM database)
Disorder: Knobloch syndrome 1 
Also known as: KNO RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE 
Clinical
Phenotype: high myopia, cataracts, dislocated lens, vitreoretinal degeneration, retinal detachment, occipital skull defects 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: COL18A1
Base Change: c.4054_4055delCT
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

Back