Peho-Like Syndrome (PEHOL)

Alias:
Peho Syndrome-Like
Pehol
Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy-Like Syndrome
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peho-Like Syndrome, also known as peho syndrome-like, is related to 3-methylglutaconic aciduria, type iii and peho syndrome. An important gene associated with Peho-Like Syndrome is CCDC88A (Coiled-Coil Domain Containing 88A). Affiliated tissues include brain and skin, and related phenotypes are hyperreflexia and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
5
2

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