Phenotype #0000061011
| Individual ID |
00074404 |
| Associated disease |
? |
| Diagnosis/Initial |
infantile hypercalcemia |
| Diagnosis/Definite |
- |
| Phenotype details |
ephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152) |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
00y02m (2 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Pieter Klap |
| Database submission license |
No license selected |
| Created by |
Johan den Dunnen |
| Date created |
2016-10-11 12:25:29 +02:00 (CEST) |
| Date last edited |
2017-09-08 13:02:04 +02:00 (CEST) |
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