Log In|Sign Up
ENPolymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome (PMGEDSV)
Alias:
Polymicrogyria with or Without Vascular-Type Eds
Pmgedsv
Polymicrogyria Without Vascular-Type Ehlers-Danlos Syndrome
Vascular Ehlers-Danlos-Polymicrogyria Syndrome
Polymicrogyria, with/without Vascular-Type Eds
Vascular Eds with Polymicrogyria
Favorite
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome, is also known as polymicrogyria with or without vascular-type eds. An important gene associated with Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain). Affiliated tissues include skin and cortex, and related phenotypes are seizure and delayed speech and language development
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
