Global Variome shared LOVD

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

Phenotype #0000291648 Individual ID 00398520 Associated disease - Phenotype details visual acuity right/left eye: 0.20/0.20, electroretinogram: residual, color vision: abnormal, photophobia, nystagmus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite achromatopsia Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein no responses in calcium imaging measurements Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-05 20:33:28 +01:00 (CET) Date last edited N/A

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