Corpus Callosum, Agenesis of, with Abnormal Genitalia (ACCAG)

Alias:
Proud Syndrome
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Proud-Levine-Carpenter Syndrome
Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Acc with Abnormal Genitalia
Acc-Abnormal Genitalia Syndrome
Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia
Agenesis of the Corpus Callosum, with Abnormal Genitalia
Corpus Callosum Agenesis with Abnormal Genitalia
Congenital Neurologic Anomalies
Accag
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corpus Callosum, Agenesis of, with Abnormal Genitalia, also known as proud syndrome, is related to lissencephaly, x-linked, 2 and developmental and epileptic encephalopathy 1, and has symptoms including constitutional symptom An important gene associated with Corpus Callosum, Agenesis of, with Abnormal Genitalia is ARX (Aristaless Related Homeobox). Affiliated tissues include brain and bone, and related phenotypes are seizure and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
--
15
94
7

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

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
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IF
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