X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders

Alias:
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders, also known as epilepsy, x-linked, with variable learning disabilities and behavior disorders, is related to epilepsy, x-linked 1, with variable learning disabilities and behavior disorders and intellectual developmental disorder, x-linked 50. An important gene associated with X-Linked Epilepsy with Variable Learning Disabilities and Behavior Disorders is SYN1 (Synapsin I), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neurotransmitter release cycle. Related phenotypes are macrocephaly and seizure
Related ID:
MESH:C564505

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
--
5
32
11

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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