Intellectual Disability-Epilepsy-Extrapyramidal Syndrome

Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome is related to neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures. An important gene associated with Intellectual Disability-Epilepsy-Extrapyramidal Syndrome is DEAF1 (DEAF1 Transcription Factor). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and constipation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
7
8

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top