Global Variome shared LOVD

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Phenotype #0000251559 Individual ID 00333372 Associated disease neuropathy, optic Phenotype details Moderately reduced visual acuity (HP:0030515); Rotary nystagmus (HP:0001583); Central scotoma (HP:0000603); Retinal vascular tortuosity (HP:0012841); Hypoplasia of the fovea (HP:0007750); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Open bite (HP:0010807); Macroglossia (HP:0000158) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 13y (13 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 11:16:44 +01:00 (CET) Date last edited 2021-02-26 08:43:24 +01:00 (CET)

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