Term Name: | non-syndromic X-linked intellectual disability 30 |
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Synonyms: | MRX30, MRX47, X-linked mental retardation 30, X-linked mental retardation 30/47, X-linked mental retardation 47 |
Definition: | A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. |
Ontology: | Human Disease [DOID:0112051] ( DOID:0112051 ) |