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

• OMIM:301076

Ontology

Human Disease   ( DOID:0070422 )