Global Variome shared LOVD

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

Phenotype #0000170750 Individual ID 00225647 Associated disease - Phenotype details Blindness (HP:0000618); Optic disc pallor (HP:0000543); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Paracentral scotoma (HP:0030528) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Optic atrophy Age/Examination - Age/Diagnosis 20y? Age/Onset 05y? Phenotype/Onset - Protein - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2019-02-22 10:28:10 +01:00 (CET) Date last edited 2020-05-18 15:33:58 +02:00 (CEST)

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