Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV)

Alias:
Nedsdv
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Eurodevelopmental Disorder with Spastic Diplegia and Visual Defects
Mental Retardation, Autosomal Dominant 19, Formerly
Mrd19, Formerly
Mrd19
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects, also known as nedsdv, is related to severe intellectual disability-progressive spastic diplegia syndrome and autosomal dominant intellectual developmental disorder 19. An important gene associated with Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects is CTNNB1 (Catenin Beta 1). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
31
14

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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Publications
No data available

References Literature

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