Phenotype #0000228415

Global Variome shared LOVD

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

Individual ID	00301110
Associated disease	APRTD
Phenotype details	nephrolithiasis; serum creatinine at diagnosis 1.2 (mg/dL), serum creatinine latest 1.1 (mg/dL)
Diagnosis/Initial	APRT deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	APRTD
Age/Examination	-
Age/Diagnosis	33y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-07 19:48:54 +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.