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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, X-linked, syndromic, Pilorge type

Intellectual developmental disorder, X-linked, syndromic, Pilorge type

Summary

The Pilorge type of X-linked syndromic intellectual developmental disorder (MRXSP) is characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities, including autism spectrum disorder (ASD). More variable features include motor incoordination, seizures, and ocular abnormalities (summary by Marcogliese et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: GLR, MRXSP, GLRA2
    Summary: glycine receptor alpha 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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