Phenotype #0000220820

Global Variome shared LOVD

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

Individual ID	00287083
Associated disease	PARK
Diagnosis/Initial	brain calcification
Diagnosis/Definite	-
Phenotype details	see paper; ..., Parkinsonism, slurred speech, seizures; calcification basal ganglia, thalamus, dentate nuclei, vermis, cortex, subcortical white matter, midbrain, pons, medulla
Inheritance	Familial, autosomal recessive
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	23y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-02-11 21:02:04 +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.