Term Name: | syndromic X-linked intellectual disability Pilorge type |
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Synonyms: | MRXSP |
Definition: | A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. |
Ontology: | Human Disease [DOID:0070422] ( DOID:0070422 ) |