Global Variome shared LOVD

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

Phenotype #0000222988 Individual ID 00289375 Associated disease brain calcification Diagnosis/Initial brain calcification Diagnosis/Definite - Phenotype details normal birth and early milestones; onset teenage, depression, dysarthria; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria); Parkinsonism rigidity, bradykinesia; no dystonia; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter Inheritance Familial, autosomal recessive Age/Examination 40y (40 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-03-07 20:12:27 +01:00 (CET) Date last edited N/A

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