Setbp1 Haploinsufficiency Disorder (MRD29)

Alias:
Setbp1-Related Disorder
Setbp1 Disorder
Mental Retardation, Autosomal Dominant 29
Setbp1-Related Intellectual Disability
Setbp1 Related Developmental Delay
Setbp1 Loss of Function Syndrome
Setbp1-Related Disorders
Setbp1 Lof Syndrome
Mrd29
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Setbp1 Haploinsufficiency Disorder, also known as setbp1-related disorder, is related to intellectual developmental disorder, autosomal dominant 29 and speech and communication disorders. An important gene associated with Setbp1 Haploinsufficiency Disorder is SETBP1 (SET Binding Protein 1). Affiliated tissues include skin and eye.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
9
12

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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