Intellectual Developmental Disorder, Autosomal Dominant 43 (MRD43)

Alias:
Mrd43
Autosomal Dominant Intellectual Developmental Disorder 43
Autosomal Dominant Non-Syndromic Intellectual Disability 43
Intellectual Disability, Autosomal Dominant 43
Mental Retardation, Autosomal Dominant 43
Autosomal Dominant Mental Retardation 43
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, Autosomal Dominant 43, also known as mrd43, is related to hivep2-related intellectual disability and autosomal dominant non-syndromic intellectual disability. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 43 is HIVEP2 (HIVEP Zinc Finger 2). Affiliated tissues include brain, and related phenotypes are seizure and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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9
36
4

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
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IF
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