Mosaic Variegated Aneuploidy Syndrome

Alias:
Warburton-Anyane-Yeboa Syndrome
Mosaic Variegated Aneuplody Microcephaly Syndrome
Warburton Anyane Yeboa Syndrome
Mva Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mosaic Variegated Aneuploidy Syndrome, also known as warburton-anyane-yeboa syndrome, is related to mosaic variegated aneuploidy syndrome 2 and mosaic variegated aneuploidy syndrome 1, and has symptoms including myoclonic seizures An important gene associated with Mosaic Variegated Aneuploidy Syndrome is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include eye and kidney, and related phenotypes are cataract and corneal opacity
Related ID:
MESH:C536987

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
<1/1000000
42
236
10

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

Category
Name
MGI
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Publications
No data available

References Literature

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