Log In|Sign Up
ENCombined Oxidative Phosphorylation Deficiency 44 (COXPD44)
Alias:
Coxpd44
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy
Favorite
Combined Oxidative Phosphorylation Deficiency 44, also known as coxpd44, is related to leigh syndrome. An important gene associated with Combined Oxidative Phosphorylation Deficiency 44 is FASTKD2 (FAST Kinase Domains 2). Affiliated tissues include skeletal muscle and brain, and related phenotypes are seizure 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
