Log In|Sign Up
ENEncephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities (NELABA)
Alias:
Lipoyltransferase 2 Deficiency
Nelaba
Lipt2d
Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities
Lipoyl Transferase 2 Deficiency
Favorite
Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities, is also known as lipoyltransferase 2 deficiency. An important gene associated with Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include brain, and related phenotypes are increased serum lactate and profound 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
