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GTR Home > Conditions/Phenotypes > Hypomyelinating leukodystrophy 13

Hypomyelinating leukodystrophy 13

Summary

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C11orf73, HLD13, HSPC138, HSPC179, L7RN6, OPI10, HIKESHI
    Summary: heat shock protein nuclear import factor hikeshi

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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