Phenotype #0000304595

Individual ID 00412603
Associated disease BBS
Phenotype details retinal disease: retinitis pigmentosa with atrophic changes in the macula; polydactyly/skeletal anomalies: bilateral post-axialcutaneous polydactyly; liver disease: elevated transaminases; obesity (BMI = 43.2); other features: hypercholesterolemia, pancreatitis, speech abnormalities in childhood (initial consonant omission)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome (BBS)
Age/Examination -
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 2022-07-01 18:31:23 +02:00 (CEST)
Date last edited N/A

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