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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