Global Variome shared LOVD

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Phenotype #0000284237 Individual ID 00390749 Associated disease - Phenotype details Visual acuity right eye/left eye: hand movement_hand movement, cone-rod dystrophy with yellowish macular deposits, mid-peripheral nummular pigment clumping and atrophy, macular atrophy Diagnosis/Initial cone-rod dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-11-11 19:27:39 +01:00 (CET) Date last edited N/A

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