Orphanet: RARS related autosomal recessive hypomyelinating leukodystrophy

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Disease definition

A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.

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RARS-related autosomal recessive hypomyelinating leukodystrophy

ORPHA:438114

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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