Global Variome shared LOVD

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

Phenotype #0000229736 Individual ID 00302655 Associated disease OPA9 Phenotype details Strabismus (HP:0000486); Abnormality of vision (HP:0000504); Myopia (HP:0000545); Visual loss (HP:0000572); Exotropia (HP:0000577); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Tonsillitis (HP:0011110); Temporal optic disc pallor (HP:0012511); Abnormal best corrected visual acuity test (HP:0030534); Pituitary gland cyst (HP:0410278) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein - Owner name Khadidja Guehlouz Database submission license No license selected Created by Khadidja Guehlouz Date created 2020-05-27 10:39:37 +02:00 (CEST) Date last edited 2020-05-28 11:00:31 +02:00 (CEST)

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