Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cerebral cavernous malformations 1

Disorder
OMIM #: #116860  (Click to access OMIM database)
Disorder: Cerebral cavernous malformations 1 
Also known as: CAVERNOUS ANGIOMA, FAMILIAL CAVERNOUS ANGIOMATOUS MALFORMATIONS
CAM CEREBRAL CAPILLARY MALFORMATIONS  
Clinical
Phenotype: cerebral cavernous angiomas 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: KRIT1
Base Change: G>C, at nucleotide 47
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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