Intellectual Developmental Disorder, Autosomal Dominant 1 (MRD1)

Alias:
Mrd1
Autosomal Dominant Intellectual Developmental Disorder 1
Mental Retardation, Autosomal Dominant 1
Autosomal Dominant Non-Syndromic Intellectual Disability 1
Mental Retardation, Autosomal Dominant, Type 1
Intellectual Disability, Autosomal Dominant 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, Autosomal Dominant 1, also known as mrd1, is related to subglottis benign neoplasm and macroglossia. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 1 is MBD5 (Methyl-CpG Binding Domain Protein 5), and among its related pathways/superpathways are Chromatin organization and PKMTs methylate histone lysines. Affiliated tissues include eye and thyroid, and related phenotypes are intellectual disability and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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14
153
19

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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