Encephalopathy, 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
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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
AR
No data available Phase
Notyetdocumented
1
3
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top