Phenotype #0000171760

Global Variome shared LOVD

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

Individual ID	00226648
Associated disease	THMD
Diagnosis/Initial	biotin responsive basal ganglia disease
Diagnosis/Definite	THMD-2
Phenotype details	spasticity, seizure; neuroimaging abnormalities: caudate, putamen, lactate on MRS
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-09 21:20:59 +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.