Global Variome shared LOVD

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

Phenotype #0000251565 Individual ID 00333378 Associated disease neuropathy, optic Phenotype details Reduced visual acuity (HP:0007663); Optic neuropathy (HP:0001138); Exodeviation (HP:0020049) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset 01y-05y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-02-25 11:27:03 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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