Global Variome shared LOVD

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Phenotype #0000293956 Individual ID 00400918 Associated disease - Phenotype details onset of sensorineural hearing loss (decade): no loss, onset of visual symptoms (years): 31 , visual acuity right/left eye: 1/HM, main ophthalmology examination findings: electroretinography: widespread retinopathy, peripheral pigmentum Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 47y (47 years) 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 2022-01-27 11:20:14 +01:00 (CET) Date last edited N/A

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