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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 6

Pontocerebellar hypoplasia type 6

Synonyms
Encephalopathy fatal infantile with mitochondrial respiratory chain defects
Modes of inheritance
Autosomal recessive inheritance (HPO, OMIM)

Summary

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]

Available tests

70 tests are in the database for this condition.

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Clinical tests (69 available)

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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