Spastic Ataxia 2, Autosomal Recessive (SPAX2)

Alias:

Spax2

Ataxia, Spastic, Type 2, Autosomal Dominant

Ataxia, Spastic, 2, Autosomal Recessive

Ataxia, Spastic 2, Autosomal Recessive

Autosomal Spastic Paraplegia Type 58

Autosomal Spastic Ataxia Type 2

Spastic Ataxia 2

Spg58

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Ataxia 2, Autosomal Recessive, also known as spax2, is related to spastic ataxia 2 and spastic ataxia, and has symptoms including cerebellar ataxia, muscular fasciculation and tremor. An important gene associated with Spastic Ataxia 2, Autosomal Recessive is KIF1C (Kinesin Family Member 1C). Affiliated tissues include brain, and related phenotypes are dysarthria and hypodontia

Related ID：

MALACARDS：SPS142

OMIM：611302

MESH：D002524