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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 17

Leukodystrophy, hypomyelinating, 17

Summary

Hypomyelinating leukodystrophy-17 (HLD17) is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, 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: HLD17, JTV-1, JTV1, P38, AIMP2
    Summary: aminoacyl tRNA synthetase complex interacting multifunctional protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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