Global Variome shared LOVD

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Phenotype #0000308992 Individual ID 00417512 Associated disease BBS Phenotype details obesity; intellectual disability; renal symptoms: chronic kidney disease; retinitis pigmentosa; no polydactyly; no deafness; no anosmia; atopy; no BBS facies; congenital heart disease: unknown; fatty liver: unknown; amenorrhea Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) 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 2022-09-18 20:43:24 +02:00 (CEST) Date last edited N/A

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