Nescav Syndrome (NESCAVS)

Alias:

Neurodegeneration and Spasticity with or Without Cerebellar Atrophy or Cortical Visual Impairment

Nescavs

Intellectual Disability, Autosomal Dominant 9

Mrd9

Autosomal Dominant Non-Syndromic Intellectual Disability 9

Mental Retardation, Autosomal Dominant 9, Formerly

Autosomal Dominant Intellectual Disability 9

Mental Retardation, Autosomal Dominant 9

Mrd9, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Nescav Syndrome, also known as neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment, is related to spastic paraparesis and hereditary spastic paraplegia, and has symptoms including muscle spasticity An important gene associated with Nescav Syndrome is KIF1A (Kinesin Family Member 1A), and among its related pathways/superpathways is Rett syndrome causing genes. Affiliated tissues include brain, and related phenotypes are nystagmus and flexion contracture

Related ID：

MALACARDS：NSC005

OMIM：614255

MESH：D008607