Log In|Sign Up
ENMicrophthalmia/coloboma and Skeletal Dysplasia Syndrome (MCSKS)
Alias:
Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome
Mcops14
Mcsks
Microphthalmia and/or Coloboma with or Without Rhizomelic Skeletal Dysplasia
Microphthalmia, Syndromic 14
Syndromic Microphthalmia 14
Microphthalmia and/or Coloboma, with or Without Rhizomelic Skeletal Dysplasia
Microphthalmia-Coloboma-Rhizomelic Skeletal Dysplasia
Microphthalmia, Syndromic, 14
Favorite
Microphthalmia/coloboma and Skeletal Dysplasia Syndrome, also known as colobomatous microphthalmia-rhizomelic dysplasia syndrome, is related to coloboma of macula and microphthalmia. An important gene associated with Microphthalmia/coloboma and Skeletal Dysplasia Syndrome is MAB21L2 (Mab-21 Like 2). Affiliated tissues include eye and bone, and related phenotypes are coloboma and macrocephaly
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
