Phenotype #0000222986

Individual ID	00289373
Associated disease	brain calcification
Diagnosis/Initial	brain calcification
Diagnosis/Definite	-
Phenotype details	normal birth and early milestones; onset late 20s, cognitive decline, depression; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; PEG inserted in advance stage; memory decline with severe impaired recall; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter
Inheritance	Familial, autosomal recessive
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-03-07 20:12:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD