Log In|Sign Up
ENThumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
Alias:
Upper Limb Defect-Eye and Ear Abnormalities Syndrome
Favorite
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness, is also known as upper limb defect-eye and ear abnormalities syndrome. Affiliated tissues include eye and bone, and related phenotypes are hearing impairment 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
