Corpus Callosum, Partial Agenesis of, X-Linked (ACCPX)

Alias:
X-Linked Complicated Corpus Callosum Dysgenesis
Partial Agenesis of the Corpus Callosum
Corpus Callosum, Partial Agenesis of
Agenesis of the Corpus Callosum, X-Linked, Partial
Partial Agenesis of Corpus Callosum
Agenesis, Corpus Callosum, Partial
Accpx
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corpus Callosum, Partial Agenesis of, X-Linked, also known as x-linked complicated corpus callosum dysgenesis, is related to microcephaly and neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum. An important gene associated with Corpus Callosum, Partial Agenesis of, X-Linked is L1CAM (L1 Cell Adhesion Molecule). Affiliated tissues include brain and cerebellum, 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
XL
XLD
Antenatal
<1/1000000
4
60
9

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

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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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