Cognitive Impairment with or without Cerebellar Ataxia (CIAT)

OMIM number: 614306

Comments closing date: 08/10/2025

Cognitive impairment with or without cerebellar ataxia is caused by a mutation in the SCN8A
gene. It causes intellectual disability and is a rare genetic condition leading to low IQ and delay in
achieving developmental milestones. The symptoms include delay in speech development,
poor social communication skills, with reduced interaction with other people. There can be delay
in learning how to walk and muscle tone may be reduced. The delay in movement function may
improve with time. There may also be ADHD.

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