Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000073561 Individual ID 00074403 Associated disease HCINF2 Phenotype details failure to thrive (HP:0001508), Polyuria (HP:0000103), Dehydration (HP:0001944), no muscular hypotonia (-HP:0001252), Nephrocalcinosis (HP:0000121), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Hypophosphatemia (HP:0002148) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y01m (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 22:54:34 +01:00 (CET) Date last edited N/A

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