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: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CYP24A1 |
| Base Change: | c.428_430delAAG |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
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