Leukodystrophy, hypomyelinating 3

Common Name(s)

Leukodystrophy, hypomyelinating 3

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by {7:Feinstein et al., 2010}). The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD; {312080}), which is caused by mutation in the PLP1 gene ({300401}). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leukodystrophy, hypomyelinating 3" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.