Definition

A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.

Synonyms

MRX2
X-linked mental retardation 2

Cross References

MIM:300428

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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non-syndromic X-linked intellectual disability 2

non-syndromic X-linked intellectual disability 2

Associated Genes

Associated Alleles

Associated Models