| Term Name: | syndromic X-linked intellectual disability Pilorge type |
|---|---|
| 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 ) |