Arthrogryposis, Distal, Type 2b3 (DA2B3)

Alias:
Da2b3
Distal Arthrogryposis Type 2b3
Arthrogryposis, Distal, 2b3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis, Distal, Type 2b3, also known as da2b3, is related to arthrogryposis syndrome and lethal congenital contracture syndrome 4. An important gene associated with Arthrogryposis, Distal, Type 2b3 is MYH3 (Myosin Heavy Chain 3), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Related phenotypes are downslanted palpebral fissures and narrow mouth
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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14
104
6

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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