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Metadata
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/
Xrefs

MIM:301076

Synonyms

MRXSP [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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