Syndromic X-linked intellectual disability Chudley-Schwartz type
Syndromic X-linked intellectual disability Chudley-Schwartz type
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.
Also known as intellectual disability, X-linked, syndromic, Chudley-Schwartz type, mental retardation, X-linked, syndromic, Chudley-Schwartz type, mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive, MRXSCS, X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance — per MONDO