Poretti-Boltshauser syndrome

Definition:

Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease.

References:

[1]. Andrea Poretti, et al. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?. Cerebellum. 2014 Feb;13(1):79-88. [Content Brief]

[2]. Kimberly A Aldinger, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. Am J Hum Genet. 2014 Aug 7;95(2):227-34. [Content Brief]

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