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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 20

Leukodystrophy, hypomyelinating, 20

Summary

Hypomyelinating leukodystrophy-20 (HLD20) is an autosomal recessive neurodegenerative disorder characterized by the loss of developmental milestones at about 12 to 16 months of age after normal early development. Patients lose motor, language, and cognitive skills and show poor overall growth with microcephaly. The disorder is progressive, resulting in feeding difficulties and spastic quadriplegia. Some patients may have seizures. Brain imaging shows subcortical white matter abnormalities and a thin corpus callosum, suggesting a myelination defect. Death usually occurs in childhood (Al-Abdi et al., 2020). For a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CNP1, HLD20, CNP
    Summary: 2',3'-cyclic nucleotide 3' phosphodiesterase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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