Log In|Sign Up
ENBachmann-Bupp Syndrome (BABS)
Alias:
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
Nedaba
Babs
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Odc1-Related Neurodevelopmental Disorder
Ornithine Decarboxylase Deficiency
Favorite
Bachmann-Bupp Syndrome, also known as neurodevelopmental disorder with alopecia and brain abnormalities, is related to alopecia, congenital and alopecia. An important gene associated with Bachmann-Bupp Syndrome is ODC1 (Ornithine Decarboxylase 1). Affiliated tissues include brain and skin, and related phenotypes are macrocephaly 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
