Cyagen
Tsing hua
Home
Toolbox
Resource
Workflow
TutorialsCitationsDownloads
News & Insights
Genetic EncyclopediaFrontiersIndustry InsightsCase Studies
About Us
About the SiteContact UsPrivate PolicyUser Agreement
Log In|Sign Up
EN

Yuan-Harel-Lupski Syndrome (YUHAL)

Alias:
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
17p11.2p12 Microduplication Syndrome
Trisomy 17p11.2-P12
Trisomy 17p11.2p12
Dup(17)(p11.2p12)
Yuhal Syndrome
Yuhal
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Yuan-Harel-Lupski Syndrome, also known as pmp22-rai1 contiguous gene duplication syndrome, is related to charcot-marie-tooth disease, demyelinating, type 1a and autism. An important gene associated with Yuan-Harel-Lupski Syndrome is YUHAL (Yuan-Harel-Lupski Syndrome). Affiliated tissues include spinal cord and heart, and related phenotypes are global developmental delay and delayed speech and language development
Related ID：
MALACARDS：YNH001
OMIM：616652

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
<1/1000000
1
5
5
YNH001

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