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GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability 94

Syndromic X-linked intellectual disability 94

Synonyms
MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; X-Linked Mental Retardation 94

Summary

A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. [from MONDO]

Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW, iGluR3, GRIA3
    Summary: glutamate ionotropic receptor AMPA type subunit 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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