Phenotype #0000000858

Individual ID 00001704
Associated disease HSD10MD
Inheritance Unknown
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Onset 02y06m
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; developmental regression, Hyperkinetic involuntary movement disorder, EEG showed diffuse background slowing and multifocal spike or polyspike activity
Enzyme/Activity -
Protein -
Age/Diagnosis -
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2012-02-14 15:41:51 +01:00 (CET)
Date last edited 2012-02-14 16:01:15 +01:00 (CET)

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.