Phenotype #0000082468

Individual ID 00104551
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details no ataxia (no SCA), disease duration 48y; general cognitive impairment with severe developmental speech and motor delay, chorea, dystonia, rigor, and myoclonus, but no cerebellar symptoms such as ataxia or dysarthira; MRI no cerebellar abnormalities; no family history
Inheritance Unknown
Age/Examination 49y (49 years)
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-05-12 19:06:44 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.