Phenotype #0000083725

Individual ID 00072246
Associated disease EIEE
Phenotype details regression (HP:0002376), intellectual impairment (HP:0100543), no expressive speech (HP:0000750), chorea (HP:0002072), later rigidity (HP:0002063), hypokinesia (HP:0002375), hemiclonic seizures (HP:0006813), generalized tonicclonic
seizures (HP:0002069), spasticity (HP:0001257), impaired volitional movement (HP:?)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 01y10m
Phenotype/Onset -
Protein -
Intellectual_dis -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Johan den Dunnen
Date created 2017-06-24 22:31:22 +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.