Global Variome shared LOVD

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Phenotype #0000288777 Individual ID 00395579 Associated disease - Phenotype details early onset rod-cone dystrophy, exotropia, dyschromatopsia, nystagmus, obesity (phenotypic finding probably explained by a non-genetic cause) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Early onset retinitis pigmentosa, cataract, obesity Age/Examination - 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 2021-12-08 14:12:08 +01:00 (CET) Date last edited N/A

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