Phenotype #0000155297

Global Variome shared LOVD

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

Individual ID	00207520
Associated disease	SGBS2
Phenotype details	Coarse facial features and contractures of the fingers. Autopsy showed cystic dilation of the intrahepatic ducts, a large cystic structure in the hilar region of the liver, and mild hydronephrosis. There were no obvious brain malformations. ALP level not applicable.
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Philippe Campeau
Database submission license
Created by	Philippe Campeau
Date created	2018-11-23 18:06:32 +01:00 (CET)
Date last edited	N/A

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