Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 (IMNEPD1)

Alias:
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset
Imnepd
Imnepd1
Multisystem Neurologic, Endocrine, and Pancreatic Disease, Infantile-Onset
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1, also known as neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset, is related to neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 and sensorineural hearing loss, and has symptoms including ataxia An important gene associated with Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 is PTRH2 (Peptidyl-TRNA Hydrolase 2). Affiliated tissues include brain and pancreas, and related phenotypes are ataxia and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
3
11
7

Medical Symptom

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

Gene & Mutation

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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!
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