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syndromic X-linked intellectual disability Chudley-Schwartz type (DOID:0060819)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS; X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
Alt IDs: OMIM:300861
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.


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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
12/10/2024
MGI 6.24
The Jackson Laboratory