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GTR Home > Conditions/Phenotypes > Hypopigmentation, organomegaly, and delayed myelination and development

Hypopigmentation, organomegaly, and delayed myelination and development

Summary

Hypopigmentation, organomegaly, and delayed myelination and development (HOD) is characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder (Nicoli et al., 2019). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63, CLCN7
    Summary: chloride voltage-gated channel 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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