Disease #03342 (EIEE5 (encephalopathy, epileptic, early infantile, type 5 (EIEE-5)), OMIM:613477)

Official abbreviation EIEE5
Name encephalopathy, epileptic, early infantile, type 5 (EIEE-5)
OMIM ID 613477
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene SPTAN1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00381296 172283 - - M no Germany - - - - - EIEE5 Febrile seizure (within the age range of 3 months to 6 years), Simple febrile seizure, Global developmental delay, Motor delay, Delayed speech and language development, Impaired social interactions, Poor eye contact, Ataxia, Abnormality of coordination, Short attention span, Diminished ability to concentrate, Muscular hypotonia, Intellectual disability, Intellectual disability, borderline, Behavioral abnormality, Joint hypermobility, EEG abnormality, Impulsivity, Disinhibition, Impaired social interactions SPTAN1 SPTAN1 1 1 Andreas Laner
00391874 108P - - F no Spain - - - - - EIEE5 - - NAA10, SPTAN1 2 1 Alejandro Brea-Fernández
Legend   How to query  

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.