Phenotype #0000289762

Individual ID 00396601
Associated disease -
Phenotype details Pulmonary artery stenosis, right stomach, polysplenia, retrognathia, polydactyly, postaxial, lower limbs, kidney abnormality, enlarged kidneys, renal cysts, situs inversus totalis
Diagnosis/Initial Bardet-Biedl syndrome (BBS)
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
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 Julia Lopez
Date created 2021-12-16 13:33:12 +01:00 (CET)
Date last edited N/A

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