Global Variome shared LOVD

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Phenotype #0000227555 Individual ID 00300254 Associated disease - Phenotype details normal physical development, normal body mass index, no symptoms of Sensenbrenner syndrome, no polydactyly, no short-rid, no micromelia, <5y night vision abnormalities; 30y-optic nerve pallor, retinal vessel attenuation, bone spicule pigmentary change anterior to arcades and in nasal retina, extensive RPE, choroidal atrophy each macula; 46y-full field ERG responses undetectable to all stimulus conditions Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal recessive Diagnosis/Definite RP81 Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset - 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 2020-04-25 18:28:53 +02:00 (CEST) Date last edited N/A

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