Phenotype #0000279148

Individual ID 00385352
Associated disease -
Phenotype details retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Dislipidemia, HyperinsulinemiaOvarian cyst, Hyperphagia, Depression, OCD
Diagnosis/Initial Bardet–Biedl Syndrome (BBS)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 14y8m (14 years, 8 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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