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GTR Home > Conditions/Phenotypes > Hypomyelinating leukodystrophy 10

Hypomyelinating leukodystrophy 10

Summary

Hypomyelinating leukodystrophy-10 (HLD10) is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HLD10, P5CR2, PYCR2
    Summary: pyrroline-5-carboxylate reductase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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