Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome

Alias:
Da Silva Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome, also known as da silva syndrome, is related to microcephaly and corpus callosum, agenesis of. An important gene associated with Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known. Affiliated tissues include skin, and related phenotypes are delayed skeletal maturation and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
15
154
3

Medical Symptom

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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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