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  2. CIMDAG syndrome

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.

Biomedical Dictionary

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