Log In|Sign Up
ENHyperphenylalaninemia, Mild, Non-Bh4-Deficient (HPANBH4)
Alias:
Hyperphenylalaninemia Due to Dnajc12 Deficiency
Hpanbh4
Non-Phenylketonuric Non-Bh4-Deficiency Hyperphenylalaninemia
Favorite
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient, is also known as hyperphenylalaninemia due to dnajc12 deficiency. An important gene associated with Hyperphenylalaninemia, Mild, Non-Bh4-Deficient is DNAJC12 (DnaJ Heat Shock Protein Family (Hsp40) Member C12). Affiliated tissues include brain, and related phenotypes are global developmental delay and dystonia
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
