Global Variome shared LOVD

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

Phenotype #0000078751 Individual ID 00100538 Associated disease PXE Phenotype details normal skin; angioid streaks eye (HP:0001102); no gastrointestinal signs; no vascular symptoms; no cardiac symptoms Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-03-04 14:49:28 +01:00 (CET) Date last edited N/A

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