Global Variome shared LOVD

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Phenotype #0000304530 Individual ID 00412536 Associated disease - Phenotype details anthropometric data: height: 5 feet 2 inch; weight: 75 Kg; body mass index (BMI): 30.2 (obese); major bbs phenotypes: retinal degeneration; polydactyly; obesity; developmental delay; no hypogonadism; renal abnormality; minor bbs phenotypes: speech disability; strabismus, cataract, astigmatism; brachydactyly, syndactyly; no diabetes mellitus; no ataxia or imbalance; no mild spasticity; no dental anomaly; no heart problems; no liver disorders; no hearing loss; gastro-intestinal complications: digestion problem; no dermatologic issues Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 20y (20 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 2022-06-30 12:01:37 +02:00 (CEST) Date last edited N/A

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