Phenotype #0000279116

Individual ID 00385320
Associated disease -
Phenotype details retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hyperinsulinemia, Dislipidemia, Acanthosis nigricansLow set ears, Hypotonia, UTIs, Vocal cord cyst, Abnormal teeth
Diagnosis/Initial Bardet–Biedl Syndrome (BBS)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 18y4m (18 years, 4 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-10-09 03:44:00 +02:00 (CEST)
Date last edited N/A

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