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

Intellectual disability, X-linked, syndromic, Bain type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE

Summary

Most individuals with HNRNPH2-related neurodevelopmental disorder (HNRNPH2-NDD) have symptoms early in life, before age 12 months. The major features of HNRNPH2-NDD are developmental delay / intellectual disability, motor and language delays, behavioral and psychiatric disorders, and growth and musculoskeletal abnormalities. Minor features include dysmorphic facies, gastrointestinal disturbances, epilepsy, and visual defects. Although HNRNPH2-NDD is an X-linked condition, there is not enough information on affected females versus affected males to make any generalizations about phenotypic differences between the two sexes. [from GeneReviews]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FTP3, HNRPH', HNRPH2, MRXSB, NRPH2, hnRNPH', HNRNPH2
    Summary: heterogeneous nuclear ribonucleoprotein H2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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