Log In|Sign Up
ENIsolated Klippel-Feil Syndrome
Alias:
Congenital Cervical Vertebral Fusion
Congenital Fused Cervical Segments
Klippel-Feil Malformation
Klippel-Feil Sequence
Favorite
Isolated Klippel-Feil Syndrome, also known as congenital cervical vertebral fusion, is related to klippel-feil syndrome and syringomyelia. An important gene associated with Isolated Klippel-Feil Syndrome is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include bone and heart, and related phenotypes are short neck and webbed neck
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
