Search Ontology:
Human Disease
syndromic X-linked intellectual disability Pilorge type
- Term ID
- DOID:0070422
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/35294868/
- References
- Ontology
- Human Disease ( DOID:0070422 )
- is a type of
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