Phenotype #0000304531

Individual ID 00412537
Associated disease -
Phenotype details anthropometric data: height: 4 feet 10 inch; weight: 65 Kg; body mass index (BMI): 30.9 (obese); major bbs phenotypes: retinal degeneration; polydactyly; obesity; developmental delay; no hypogonadism; renal abnormality; minor bbs phenotypes: speech disability; no strabismus, cataract, astigmatism; brachydactyly, syndactyly; no diabetes mellitus; no ataxia or imbalance; no mild spasticity; no dental anomaly; no heart problems; liver disorders - no data; hearing loss; gastro-intestinal complications: digestion problem; no dermatologic issues; menstruation: irregular
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-30 12:01:37 +02:00 (CEST)
Date last edited N/A

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