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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 15

Leukodystrophy, hypomyelinating, 15

Summary

Hypomyelinating leukodystrophy-15 (HLD15) is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018) For a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EARS, EPRS, GLUPRORS, HLD15, PARS, PIG32, QARS, QPRS, EPRS1
    Summary: glutamyl-prolyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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