Global Variome shared LOVD

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Phenotype #0000281034 Individual ID 00387471 Associated disease - Phenotype details retinal dystrophy, obesity, polydactyly, cognitive impairment, psychomotor delay, urogenital anomalies, Hearing loss Diagnosis/Initial Alstrom syndrome (ALMS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 11y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2021-10-29 21:32:58 +02:00 (CEST) Date last edited N/A

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