Global Variome shared LOVD

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Phenotype #0000293966 Individual ID 00400928 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Usher syndrome type 2A Phenotype details onset of sensorineural hearing loss (decade): 1st, onset of visual symptoms (years): 19 , visual acuity: 0.3/0, main ophthalmology examination findings: electroretinography: widespread photo receptor dystrophy, bone spicule pigmentation in mid retinal Inheritance Familial, autosomal recessive Age/Examination 34y (34 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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