Phenotype #0000346051

Global Variome shared LOVD

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

Individual ID	00457587
Associated disease	MTPD
Phenotype details	no hypoglycemia, no cardiomyopathy, skeletal myopathy, peripheral neuropathy
Diagnosis/Initial	fatty acid oxidation disorder
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MTPD2
Age/Examination	1y7m (1 year, 7 months)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-14 19:45:20 +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.