Log In|Sign Up
ENSeizures, Scoliosis, and Macrocephaly/microcephaly Syndrome (SSMS)
Alias:
Seizures-Scoliosis-Macrocephaly Syndrome
Seizures, Scoliosis, and Macrocephaly Syndrome
Ssms
Ssm Syndrome
Favorite
Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome, also known as seizures-scoliosis-macrocephaly syndrome, is related to exostoses, multiple, type ii. An important gene associated with Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone and skin, and related phenotypes are seizure and global developmental delay
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
