Disease

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.

Synonyms

MRXSP

Cross References

MIM:301076

Parent Terms

syndromic X-linked intellectual disability

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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