Metadata | |
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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/ |
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Synonyms |
MRXSP [EXACT] |
Parent Relationships |