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GTR Home > Conditions/Phenotypes > Leukodystrophy, hypomyelinating, 24

Summary

Hypomyelinating leukodystrophy-24 (HLD24) is an autosomal dominant disorder characterized by global developmental delay and neurologic deterioration (Segawa et al., 2021). 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: ATPIH, ATPIS, AUNA2, DFNA84, HLD24, ATP11A
    Summary: ATPase phospholipid transporting 11A

Clinical features

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