syndromic X-linked intellectual disability Chudley-Schwartz type

Rare Disease

MONDO:0010462

Also Known As

MRXSCSX-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbanceX-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbanceintellectual disability, X-linked, syndromic, Chudley-Schwartz typemental retardation, X-linked, syndromic, Chudley-Schwartz typemental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessiveintellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbancemental retardation, X-linked, with seizures, hypogammaglobulinemia, 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.