Intellectual Developmental Disorder, Autosomal Dominant 47 (MRD47)

Alias:
Mental Retardation, Autosomal Dominant 47
Mrd47
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Autosomal Dominant Intellectual Developmental Disorder 47
Intellectual Disability, Autosomal Dominant 47
Autosomal Dominant Mental Retardation 47
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, Autosomal Dominant 47, is also known as mental retardation, autosomal dominant 47. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 47 is STAG1 (STAG1 Cohesin Complex Component). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
1
4
2

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
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IF
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