| Metadata | |
|---|---|
| ID | DOID:0070422 |
| Name | syndromic X-linked intellectual disability Pilorge type |
| 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. https://pubmed.ncbi.nlm.nih.gov/35294868/ |
| Xrefs | |
| Synonyms |
MRXSP [EXACT] |
| Parent Relationships |