Global Variome shared LOVD

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Phenotype #0000288786 Individual ID 00395588 Associated disease - Phenotype details horizontal nystagmus, macular atrophy, photophobia, posterior subcapsular cataract, rod-cone dystrophy, red-green dyschromatopsia, obesity, delayed menarche, proteinuria, abnormality of the kidney, postaxial foot polydactyly, hiatus hernia, systemic lupus erythematosus Diagnosis/Initial Bardet-Biedl-like syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination - 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 2021-12-08 14:12:08 +01:00 (CET) Date last edited N/A

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