Log In|Sign Up
ENFountain Syndrome
Alias:
Hearing Loss-Skeletal Dysplasia-Coarse Face with Full Lips Syndrome
Deafness-Skeletal Dysplasia-Coarse Face with Full Lips Syndrome
Hearing Loss-Skeletal Dysplasia-Lip Granuloma Syndrome
Deafness-Skeletal Dysplasia-Lip Granuloma Syndrome
Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, and Coarse Face with Full Lips
Deafness Skeletal Dysplasia Lip Granuloma
Favorite
Fountain Syndrome, also known as hearing loss-skeletal dysplasia-coarse face with full lips syndrome, is related to hao-fountain syndrome and sensorineural hearing loss, and has symptoms including seizures Affiliated tissues include skin and bone, and related phenotypes are intellectual disability and coarse facial features
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
