Global Variome shared LOVD

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

Phenotype #0000229737 Individual ID 00302656 Associated disease OPA9 Phenotype details Astigmatism (HP:0000483); Visual impairment (HP:0000505); Myopia (HP:0000545); Color vision defect (HP:0000551); Visual loss (HP:0000572); Exotropia (HP:0000577); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Juvenile onset (HP:0003621); Hypoplasia of the optic tract (HP:0007096); Abnormality of optic chiasm morphology (HP:0025163); Abnormal best corrected visual acuity test (HP:0030534) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Khadidja Guehlouz Database submission license No license selected Created by Khadidja Guehlouz Date created 2020-05-27 11:22:52 +02:00 (CEST) Date last edited 2020-05-28 10:51:23 +02:00 (CEST)

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