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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked 1

Intellectual disability, X-linked 1

Synonyms
Atkin Flaitz Patil Smith syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1; MENTAL RETARDATION, X-LINKED 18; MENTAL RETARDATION, X-LINKED 78; Mental retardation, X-linked, nonspecific

Summary

A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes. [from SNOMEDCT_US]

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78, XLID1, IQSEC2
    Summary: IQ motif and Sec7 domain ArfGEF 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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