Log In|Sign Up
ENRadioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation
Alias:
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Giuffre-Tsukahara Syndrome
Tsukahara Syndrome
Favorite
Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation, also known as brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation, is related to radioulnar synostosis-microcephaly-scoliosis syndrome and brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation.
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
