Global Variome shared LOVD

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

Phenotype #0000201658 Individual ID 00263300 Associated disease - Phenotype details severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256) Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset - Protein - Owner name Jasmine Chen Database submission license No license selected Created by Jasmine Chen Date created 2019-08-24 16:45:53 +02:00 (CEST) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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