Global Variome shared LOVD

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Phenotype #0000300982 Individual ID 00408864 Associated disease - Phenotype details 13y: 4/200 vision in either eye, eccentric fixation, moderate exotropia, and pendular nystagmus with small amplitude and high frequency. Cycloplegic refraction was +6.00, +6.00. Depressed and delayed rod response and cone responses, more so of cones than rods Diagnosis/Initial leber congenital amaurosis (LCA) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset worsening visual acuity since early childhood Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

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