CIMDAG syndrome

Definition:

CIMDAG syndrome is a multisystem disease characterized by cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation. CIMDAG syndrome is caused by mutations in VPS4A, a critical enzyme regulating ESCRT function.

References:

[1]. Catherine Rodger, et al. De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. [Content Brief]

[2]. Katie G Seu, et al. VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. Am J Hum Genet. 2020 Dec 3;107(6):1149-1156. [Content Brief]

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