non-syndromic X-linked intellectual disability 2

Term ID

DOID:0112016

Synonyms

• MRX2
• X-linked mental retardation 2

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. (2)

References

• OMIM:300428

Ontology

Human Disease   ( DOID:0112016 )