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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 18

Leukodystrophy, hypomyelinating, 18

Summary

Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD, DEGS1
    Summary: delta 4-desaturase, sphingolipid 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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