Phenotype #0000342256

Global Variome shared LOVD

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

Individual ID	00453599
Associated disease	metabolic syndrome
Phenotype details	see paper; ..., newborn screening tandem mass spectrometry dried blood spots
Diagnosis/Initial	inborn error of metabolism
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ACADSD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-11 15:27:41 +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.