Global Variome shared LOVD

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

Phenotype #0000026954 Individual ID 00033525 Associated disease LCA Phenotype details Pale optic disc; narrowing of the arterioles; absent foveal reflex but no clear macular abnormalities; no intraretinal pigment Migration; Onset Night Blindness, Keratoconus, Nystagmus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Raheel Qamar Database submission license No license selected Created by Raheel Qamar Date created 2012-10-12 13:26:32 +02:00 (CEST) Date last edited N/A

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