Phenotype #0000279174

Individual ID	00385378
Associated disease	-
Phenotype details	distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos
Diagnosis/Initial	BardetBiedl Syndrome (BBS)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	16y8m (16 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2021-10-09 03:44:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD