Cerebellar atrophy, visual impairment, and psychomotor retardation

Definition:

Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have been recently implicated in individuals affected with CAVIPMR.

References:

[1]. Tamar Harel, et al. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 3;98(3):562-570. [Content Brief]

[2]. Thenral S Geetha, et al. A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy. Mol Genet Genomic Med. 2018 Mar;6(2):282-287. [Content Brief]

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