Global Variome shared LOVD

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

Phenotype #0000245863 Individual ID 00327617 Associated disease neuropathy, optic Phenotype details Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination <16y (before 16 years) Age/Diagnosis - Age/Onset 04y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-01-25 10:24:29 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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