Global Variome shared LOVD

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Phenotype #0000251556 Individual ID 00333369 Associated disease neuropathy, optic Phenotype details Moderately reduced visual acuity (HP:0030515); Red-green dyschromatopsia (HP:0000642); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Intellectual disability (HP:0001249) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 09y (9 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 2021-02-25 10:47:25 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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