Global Variome shared LOVD

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Phenotype #0000304665 Individual ID 00412673 Associated disease BBS Phenotype details best corrected visual acuity: no light perception; retinitis pigmentosa - nyctalopia 20y; optic atrophy, attenuated vessels, gray atrophic retina, diffuse bone spicules, severe maculopathy, mild cortical cataract; intellectual disability: severe; short stature: yes, 146 cm; weight (kg): 86.6; obesity - calculated BMI kg/m2: 40.6; genu valgum: unknown; varum Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 48y (48 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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