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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked 100

Intellectual disability, X-linked 100

Summary

X-linked intellectual developmental disorder-100 (XLID100) is an X-linked recessive disorder characterized by a neurodevelopmental phenotype with impaired intellectual development with or without epilepsy. The phenotypic spectrum also includes hydrocephalus, either isolated or associated with other congenital anomalies, predominantly of the brain, kidneys, and urinary tract (summary by Kalantari et al., 2021). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KIF4, KIF4G1, MRX100, TMDI, XLID100, KIF4A
    Summary: kinesin family member 4A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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