Global Variome shared LOVD

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

Phenotype #0000218069 Individual ID 00283339 Associated disease PBD Phenotype details moderate intellectual disability retinitis pigmentosa, hearing loss, ataxia Diagnosis/Initial peroxisome biogenesis disorder Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2020-02-05 13:36:16 +01:00 (CET) Date last edited 2022-06-24 19:25:18 +02:00 (CEST)

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