Amish, Mennonite, and Hutterite
Genetic Disorder Database

Infantile hypercalcemia 1

Disorder
OMIM #: #143880  (Click to access OMIM database)
Disorder: Infantile hypercalcemia 1 
Also known as: HYPERCALCEMIA, IDIOPATHIC, OF INFANCY  
Clinical
Phenotype: severe hypercalcemia, failure to thrive, vomiting, dehydration, nephrocalcinosis 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CYP24A1
Base Change: c.428_430delAAG
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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