Global Variome shared LOVD

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

Phenotype #0000221952 Individual ID 00288215 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details joint stiffness, spasticity, dementia, dysarthria, cognitive impairment, ataxia, chorea, depressivity, dysmetria, tremor, hyperreflexia, slurred speech, dysphagia, rigidity, dysdiadochokinesis, gait imbalance, clumsiness, muscle fibrillation, cerebellar atrophy, dilation of lateral ventricles, brain atrophy, iron accumulation in brain, urinary incontinence Inheritance Unknown Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +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.