syndromic X-linked intellectual disability Chudley-Schwartz type
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.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXSCS
exact
X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance
exact
intellectual disability, X-linked, syndromic, Chudley-Schwartz type
exact
mental retardation, X-linked, syndromic, Chudley-Schwartz type
exact
mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive
exact
mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance
related