Global Variome shared LOVD

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

Phenotype #0000345766 Individual ID 00457273 Associated disease ? Diagnosis/Initial hypocalcemia, intractable itching Diagnosis/Definite - Phenotype details hypocalcemia, intractable itching; deafness; 15y-alive with native liver Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis 5m Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-04 10:36:41 +01:00 (CET) Date last edited N/A

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