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H905

Hereditary cerebellar ataxia is characterised by incoordination of movement which is typically incurable.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Hereditary cerebellar ataxia is characterised by incoordination of movement which is typically incurable. This hereditary ataxia is caused by a variant in the KCNIP4 gene which leads to the dysfunction of the cerebellum or its pathways.

Clinical features

The incoordination usually occurs in the limbs, gait or eyes, due to the dysfunction of the cerebellum.

Additional information

References

Pubmed ID: 31999692

Omia ID: 2240

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