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Human Disease

syndromic X-linked intellectual disability Pilorge type

Term ID
DOID:0070422
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. https://pubmed.ncbi.nlm.nih.gov/35294868/
References
Ontology
Human Disease   ( DOID:0070422 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models