Global Variome shared LOVD

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Phenotype #0000203690 Individual ID 00265912 Associated disease BBS Phenotype details height 139cm (-3.5 SD), polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening Diagnosis/Initial Bardet-Biedl syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite BBS-7 Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sadaf Naz Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-11 17:12:14 +02:00 (CEST) Date last edited N/A

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