Amish, Mennonite, and Hutterite
Genetic Disorder Database

Timothy Syndrome

Disorder
OMIM #: #601005  (Click to access OMIM database)
Disorder: Timothy Syndrome 
Also known as: LONG QT SYNDROME WITH SYNDACTYLY 
Clinical
Phenotype: multiorgan dysfunction, lethal arrhythmias, webbing of fingers, webbing of toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, autism 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CACNA1C
Base Change: G>A, at nucleotide 1216
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

Back