Term Name: | non-syndromic X-linked intellectual disability 2 |
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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. |
Ontology: | Human Disease [DOID:0112016] ( DOID:0112016 ) |