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syndromic X-linked intellectual disability Pilorge type
Summary
- Synonym
-
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0070422
- Mondo Disease Ontology
- OMIM
Related Genes
