Congenital Muscular Dystrophy Without Intellectual Disability

Alias:
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability
Cmd Without Intellectual Disability
Cmd-No Mr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Muscular Dystrophy Without Intellectual Disability, also known as congenital muscular dystrophy-dystroglycanopathy without intellectual disability, is related to congenital muscular dystrophy with intellectual disability and congenital muscular dystrophy with cerebellar involvement. An important gene associated with Congenital Muscular Dystrophy Without Intellectual Disability is CRPPA (CDP-L-Ribitol Pyrophosphorylase A). Affiliated tissues include skeletal muscle, and related phenotypes are congenital muscular dystrophy and neonatal hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
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4
31
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Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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