GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 6


A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy. [from SNOMEDCT_US]

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  • Also known as: ArgRS, DALRD2, PCH6, PRO1992, RARSL, RARS2
    Summary: arginyl-tRNA synthetase 2, mitochondrial

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