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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked, syndromic, Houge type

Intellectual disability, X-linked, syndromic, Houge type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE; MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE

Summary

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CNK2, KSR2, MAGUIN, MRXSHG, CNKSR2
    Summary: connector enhancer of kinase suppressor of Ras 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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