Pontocerebellar Hypoplasia, Type 2E (VPS53)
Pontocerebellar hypoplasia, type 2E is an autosomal recessive disorder caused by pathogenic variants in the gene VPS53. This disorder is found to be more prevalent in individuals of Jewish Moroccan descent. Clinical manifestations include diffuse muscle stiffness, epilepsy, progressive microcephaly, and global developmental delay. The disorder is progressive, and death typically occurs in infancy or childhood. Rarely affected individuals have lived into adulthood. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.