Phenotype #0000309207

Individual ID 00417839
Associated disease BBS
Phenotype details kidneys: progressive renal failure; polydactyly: upper limbs, left foot; other: antenatally association of enlarged hyperechogenic kidneys and postaxial polydactyly, described previously (case 7 of Karmous-Benailly et al.); after birth, the size of the kidneys decreased to normal, while progressive renal failure appeared; 3y: obesity, 12y: vision normal, electroretinogram: progressive retinal dystrophy, liver normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome (BBS)
Age/Examination 20y (20 years)
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 2022-09-26 12:41:35 +02:00 (CEST)
Date last edited N/A

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