Corpus Callosum, Agenesis of (ACC)

Alias:
Corpus Callosum Agenesis
Agenesis of the Corpus Callosum
Congenital Malformation of Corpus Callosum
Congenital Absence of Corpus Callosum
Acc - [agenesis of Corpus Callosum]
Corpus Callosum, Agenesis Acc
Hypoplasia of Corpus Callosum
Deformity of Corpus Callosum
Hypoplastic Corpus Callosum
Absence of Corpus Callosum
Aplasia of Corpus Callosum
Absent Corpus Callosum
Acc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corpus Callosum, Agenesis of, also known as corpus callosum agenesis, is related to corpus callosum, agenesis of, with abnormal genitalia and lissencephaly, x-linked, 2. An important gene associated with Corpus Callosum, Agenesis of 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 brain and retina, and related phenotypes are macrocephaly and intellectual disability
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
--
15
154
17

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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