Global Variome shared LOVD

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

Phenotype #0000291716 Individual ID 00398630 Associated disease - Phenotype details nystagmus; no progression in follow-up of 25 months; best-corrected visual acuity: 1.1 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 44y3m (44 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-07 14:40:16 +01:00 (CET) Date last edited N/A

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