Log In|Sign Up
ENCousin Syndrome (COUSS)
Alias:
Pelviscapular Dysplasia
Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature
Familial Pelvis-Scapular Dysplasia
Couss
Favorite
Cousin Syndrome, also known as pelviscapular dysplasia, is related to lethal recessive chondrodysplasia. An important gene associated with Cousin Syndrome is TBX15 (T-Box Transcription Factor 15). Affiliated tissues include bone and skin, and related phenotypes are macrocephaly and short 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
