Phenotype #0000230172

Individual ID 00303088
Associated disease EA
Diagnosis/Initial episodic ataxia
Diagnosis/Definite EA2
Phenotype details 8w-developmental delay, possible vision problems, signs of mild intellectual deficiency in both parents; 4m-developmental delay, mild axial hypotonia, suspected cortical blindness, no persistent vision problems; walk-15m, speechfew words; MRI brain 23m-normal
Inheritance Familial, autosomal dominant
Age/Examination -
Age/Diagnosis -
Age/Onset 00y00m56d
Phenotype/Onset -
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 2020-06-05 19:03:05 +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.