Pontocerebellar Hypoplasia, Type 2A and Type 4 (TSEN54)

Pontocerebellar hypoplasia is an autosomal recessive disorder caused by pathogenic variants in the gene TSEN54. This disorder is most prevalent in individuals from the Volendam region in the Netherlands due to the presence of a founder mutation. Symptoms of this disorder are due to an abnormally small cerebellum and brainstem. Disease onset is typically at birth. Individuals exhibit hypotonia, seizures, and have difficulty eating and breathing. Infants exhibit little or no development over the course of their lives. The disease is progressive, and death typically occurs in infancy or childhood. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):