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syndromic X-linked intellectual disability Chudley-Schwartz type (DOID:0060819)
Synonyms: X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance; mental retardation, X-linked, syndromic, Chudley-Schwartz type; MRXSCS
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory