Phenotype #0000073560

Individual ID 00074402
Associated disease HCINF2
Phenotype details Failure to thrive (HP:0001508), Polyuria (HP:0000103), Dehydration (HP:0001944), Muscular hypotonia (HP:0001252), Nephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152),
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination <00y01m (before 1 month)
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset failure to thrive (HP:0001508)
Protein -
Owner name Pieter Klap
Database submission license No license selected
Created by Johan den Dunnen
Date created 2017-01-06 22:51:53 +01:00 (CET)
Date last edited N/A

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