Global Variome shared LOVD

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Phenotype #0000316150 Individual ID 00424951 Associated disease RP Diagnosis/Initial retinitis pigmentosa Diagnosis/Definite - Phenotype details muscle weakness, 14y-vision problems in dark; retinitis pigmentosa, nystagmus; hyposthenia, infantile appearance, hypertelorism, undeveloped fertile function Inheritance Familial, autosomal recessive Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-23 21:56:43 +01:00 (CET) Date last edited N/A

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