Global Variome shared LOVD

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Phenotype #0000304598 Individual ID 00412606 Associated disease - Phenotype details retinal disease: retinitis pigmentosa with preserved foveal lamination, epiretinal membrane, cysts in the macula and optic nerve drusen; polydactyly/skeletal anomalies: history of scoliosis 11-12y, never treated, no back problems; liver disease: not tested; no obesity; other features: none Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa 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 2022-07-01 18:31:23 +02:00 (CEST) Date last edited N/A

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