RARS-related autosomal recessive hypomyelinating leukodystrophy

Orpha code: 438114OMIM code: 616140

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.

Disease data
Classification

Disease

ORPHA code
438114
OMIM code
616140
ICD10 code
E75.2
ICD11 code
-

No additional description.

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