Global Variome shared LOVD

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

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 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.