Phenotype #0000279176

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00385380
Associated disease	-
Phenotype details	showedbilateraldiffuse cystic renal dysplasia with a relatively well-preserved nephrogenesis and an expanded medulla with dilated dysplastic collecting ducts
Diagnosis/Initial	BardetBiedl Syndrome (BBS)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	4y (4 years)
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.