Term Name: | syndromic X-linked intellectual disability Chudley-Schwartz type |
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Synonyms: | mental retardation, X-linked, syndromic, Chudley-Schwartz type, MRXSCS, X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance |
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. |
Ontology: | Human Disease [DOID:0060819] ( DOID:0060819 ) |