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GTR Home > Conditions/Phenotypes > Hypomagnesemia, seizures, and intellectual disability 1

Hypomagnesemia, seizures, and intellectual disability 1

Synonyms
HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1

Summary

Hypomagnesemia, seizures, and impaired intellectual development-1 (HOMGSMR1) is characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014). Genetic Heterogeneity of Hypomagnesemia, Seizures, and Impaired Intellectual Development HOMGSMR2 (618314) is caused by mutation in the ATP1A1 gene (182310) on chromosome 1p13. [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACDP2, HOMG6, HOMGSMR, CNNM2
    Summary: cyclin and CBS domain divalent metal cation transport mediator 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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