Intellectual Developmental Disorder, Autosomal Dominant 21 (MRD21)

Alias:
Mrd21
Autosomal Dominant Intellectual Developmental Disorder 21
Mental Retardation, Autosomal Dominant 21
Ctcf-Related Neurodevelopmental Disorder
Intellectual Disability-Feeding Difficulties-Developmental Delay-Microcephaly Syndrome
Autosomal Dominant Non-Syndromic Intellectual Disability 21
Mental Retardation, Autosomal Dominant, Type 21
Autosomal Dominant Mental Retardation 21
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, Autosomal Dominant 21, also known as mrd21, is related to silver-russell syndrome 1 and cornelia de lange syndrome. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 21 is CTCF (CCCTC-Binding Factor). Affiliated tissues include lung and eye, and related phenotypes are intellectual disability and failure to thrive
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
10
50
8

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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