Global Variome shared LOVD

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

Phenotype #0000301033 Individual ID 00408915 Associated disease - Phenotype details bilateral microphthalmos and a slim prepubertal appearance Diagnosis/Initial Usher syndrome type 1 (USH1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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