GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 2C

Disease characteristics

Excerpted from the GeneReview: TSEN54-Related Pontocerebellar Hypoplasia
TSEN54-related pontocerebellar hypoplasia (PCH) includes three PCH types (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three types (which differ mainly in life expectancy) were thought to be distinct entities before their molecular basis was known. Children with PCH2 usually succumb before age ten years, whereas those with PCH4 and 5 usually succumb as neonates. Children with PCH2 have generalized clonus, incoordination of sucking and swallowing, impaired motor and cognitive development with lack of voluntary motor development, central visual impairment, and an increased risk for malignant hyperthermia. Epilepsy is present in approximately 50%. Neonates with PCH4 often have seizures, multiple joint contractures (''arthrogryposis''), generalized clonus, and central respiratory impairment. PCH5, which resembles PCH4, has been described in one family.

Available tests

15 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: XXbac-BCX105G6.5, LENG5, PCH2C, SEN34, SEN34L, TSEN34
    Summary: TSEN34 tRNA splicing endonuclease subunit

Clinical features

Help
  • Microcephaly
  • Cerebellar vermis hypoplasia
  • Visual impairment
  • Dystonia
  • Chorea
  • Cerebellar hemisphere hypoplasia
Show all (6)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk