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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 14

Leukodystrophy, hypomyelinating, 14

Summary

Hypomyelinating leukodystrophy-14 (HLD14) is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BM-002, C13orf20, HLD14, UFM1
    Summary: ubiquitin fold modifier 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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