Phenotype #0000223748

Individual ID 00296273
Associated disease epilepsy
Phenotype details walking without support-24m; seizure; walk-2y; severe intellectual disability; no speech; microcephaly (−2.5 SD); 2y-absence seizure ; seizure therapy responsive; regression motor and verbal skills; ataxia; intention tremor; no dysmorphic features; wheelchair-bound; MRI brain small vermis; EEG abnormal background activity (1 year), slow abnormal sleep features with paucity of sleep spindles (13 years)
Diagnosis/Initial epilepsy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset -
Protein -
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 2020-04-04 16:39:45 +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.