Global Variome shared LOVD

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Phenotype #0000303056 Individual ID 00410966 Associated disease - Phenotype details prelingual bilateral profound sensorineural HL (figure 1B) and delayed onset (?2.5 years) of independent ambulation, consistent with a vestibular dysfunction; night vision problems; see paper Diagnosis/Initial Usher syndrome type 1 (USH1) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-05-31 18:45:49 +02:00 (CEST) Date last edited N/A

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