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Disease Ontology Browser
non-syndromic X-linked intellectual disability 1 (DOID:0112038)
Alliance: disease page
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
Alt IDs: OMIM:309530
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory