Global Variome shared LOVD

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Phenotype #0000293968 Individual ID 00400930 Associated disease USH Diagnosis/Initial - Diagnosis/Definite Atypical Usher syndrome Phenotype details onset of sensorineural hearing loss (decade): 4, onset of visual symptoms (years): 33 , visual acuity: 0/0.2, main ophthalmology examination findings: bone spicule pigmentation in nasal retina Inheritance Familial, autosomal recessive Age/Examination 41y (41 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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