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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 25

Leukodystrophy, hypomyelinating, 25

Summary

Hypomyelinating leukodystrophy-25 (HLD25) is an autosomal recessive disorder characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although the severity of the disorder varies and some patients may have persistent neurologic deficits, such as ataxia or intellectual disability. Brain imaging shows hypomyelination that may also improve with time (Yan et al., 2022; do Rosario et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DC29, HLD25, SLC30A11, SV31, TMEM163
    Summary: transmembrane protein 163

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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