Global Variome shared LOVD

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

Phenotype #0000245775 Individual ID 00327460 Associated disease ? Diagnosis/Initial retinitis pigmentosa Diagnosis/Definite - Phenotype details see paper; ..., childhood retinitis pigmentosa (HP:0000510), 50s-muscle weakness (HP:0003324), 30s-Crohn’s disease (HP:0100280) Inheritance Familial, autosomal recessive Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Mariah De Bruin Database submission license No license selected Created by Johan den Dunnen Date created 2021-01-22 11:04:54 +01:00 (CET) Date last edited N/A

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