mental retardation, X-linked, syndromic, Chudley-Schwartz typeMRXSCSX-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
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.