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GTR Home > Conditions/Phenotypes > Hypomyelinating leukodystrophy 9

Hypomyelinating leukodystrophy 9

Summary

Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ArgRS, DALRD1, HLD9, RARS, RARS1
    Summary: arginyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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