Global Variome shared LOVD

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Phenotype #0000304667 Individual ID 00412675 Associated disease BBS Phenotype details uncorrected visual acuity: 6/21, 6/21; retinitis pigmentosa - nyctalopia 25y; bone spicules in mid-periphery, granular appearance in the posterior pole; intellectual disability: severe; short stature: yes, 132 cm; weight (kg): 57.8; obesity - calculated BMI kg/m2: 33.2; genu valgum: unknown; varum Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 29y (29 years) 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 2022-07-02 09:23:50 +02:00 (CEST) Date last edited N/A

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