Log In|Sign Up
ENCombined Oxidative Phosphorylation Deficiency 11 (COXPD11)
Alias:
Coxpd11
Combined Oxidative Phosphorylation Defect Type 11
Infantile Encephaloneuromyopathy Due to Mitochondrial Translation Defect
Encephaloneuromyopathy, Infantile, Due to Mitochondrial Translation Defect
Combined Oxidative Phosphorylation Deficiency, Type 11
Favorite
Combined Oxidative Phosphorylation Deficiency 11, also known as coxpd11, is related to restrictive dermopathy and polymicrogyria, and has symptoms including lethargy and seizures. An important gene associated with Combined Oxidative Phosphorylation Deficiency 11 is RMND1 (Required For Meiotic Nuclear Division 1 Homolog). Affiliated tissues include spinal cord and tongue, and related phenotypes are hepatomegaly and myoclonus
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
