Phenotype #0000279138

Individual ID 00385342
Associated disease -
Phenotype details retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Liver fx, Dislipidemia, HyperinsulinemiaHyperphagia, Hirschprung disease, Depression
Diagnosis/Initial Bardet–Biedl Syndrome (BBS)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 15y5m (15 years, 5 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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