Global Variome shared LOVD

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

Phenotype #0000340252 Individual ID 00451577 Associated disease ? Diagnosis/Initial achromatopsia Diagnosis/Definite ACHM2 Phenotype details night vision; day vision 20/60; no color vision; no nystagmus; no corneal haze; photophobia Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset <10m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Rabia Basharat Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-06-10 15:00:36 +02:00 (CEST) Date last edited N/A

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