Log In|Sign Up
ENKnobloch Syndrome
Alias:
Retinal Detachment-Occipital Encephalocele Syndrome
Knobloch-Layer Syndrome
Retinal Detachment and Occipital Encephalocele
Favorite
Knobloch Syndrome, also known as retinal detachment-occipital encephalocele syndrome, is related to knobloch syndrome 2 and knobloch syndrome 1, and has symptoms including seizures and unspecified visual loss. An important gene associated with Knobloch Syndrome is COL18A1 (Collagen Type XVIII Alpha 1 Chain). Affiliated tissues include eye and retina, and related phenotypes are myopia and retinal detachment
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
