Phenotype #0000341357

Individual ID 00452750
Associated disease NEDHCAS
Diagnosis/Initial -
Diagnosis/Definite NEDHCAS
Phenotype details Triggered by infection, Episodic ataxia, Intellectual disability, Delayed fine motor development; parents consanguineous (cousin and cousin), son of the father's cousin with similar symptoms (also ataxia esp. in the context of infections)
Inheritance Familial, autosomal recessive
Age/Examination 01y (1 year)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-07-22 15:43:59 +02:00 (CEST)
Date last edited 2024-07-24 10:09:09 +02:00 (CEST)

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.