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GTR Home > Conditions/Phenotypes > Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features

Summary

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity (Mueller et al., 2019). In addition, patients exhibit mild facial dysmorphism (Kutkowska-Kazmierczak et al., 2018). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-88, IKSHD, Ssc1, ELOVL1
    Summary: ELOVL fatty acid elongase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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