Term Name: | non-syndromic X-linked intellectual disability 1 |
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Synonyms: | MRX1, MRX18, MRX78, X-linked mental retardation 1, X-linked mental retardation 1/78, X-linked mental retardation 18, X-linked mental retardation 78 |
Definition: | A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. |
Ontology: | Human Disease [DOID:0112038] ( DOID:0112038 ) |