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GTR Home > Conditions/Phenotypes > Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Synonyms
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT; Ichthyosis, spastic quadriplegia, and mental retardation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADMD, CT118, ISQMR, SCA34, STGD2, STGD3, ELOVL4
    Summary: ELOVL fatty acid elongase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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