Global Variome shared LOVD

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

Phenotype #0000126825 Individual ID 00154148 Associated disease ATS1 Phenotype details hearing loss (HP:0000365); no ocular changes; hematuria (HP:0000790); proteinuria (HP:0000093) Diagnosis/Initial XL Alport syndrome Inheritance Familial, X-linked Diagnosis/Definite syndrome, Alport, X-linked recessive (ASXL) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Judy Savige Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-19 09:42:17 +01:00 (CET) Date last edited N/A

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