Global Variome shared LOVD

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Phenotype #0000138587 Individual ID 00173733 Associated disease ACHM Phenotype details achromatopsia, total colourblindness, photophobia, nystagmus, 20/200 visual acuity, normal-appearing retina, healthy, normal intelligence; electroretinography older brother revealed normal rod response, no cone response Diagnosis/Initial achromatopsia Inheritance Familial, autosomal recessive Diagnosis/Definite ACHM-3 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-07-30 22:17:11 +02:00 (CEST) Date last edited 2018-07-31 21:35:15 +02:00 (CEST)

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