Global Variome shared LOVD

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Phenotype #0000304664 Individual ID 00412672 Associated disease BBS Phenotype details best corrected visual acuity right, left eye: 6/10, 6/10; retinitis pigmentosa - nyctalopia 7y; right eye impression of a few bone spicules in mid-periphery, left eye: no cooperation; intellectual disability: moderate; short stature: yes, 155 cm; weight (kg): 92; obesity - calculated BMI kg/m2: 38.3; genu valgum; varum Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 17y (17 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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