syndromic X-linked intellectual disability Shrimpton type
X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXS9
exact
intellectual disability, X-linked, syndromic 9
exact
mental retardation, X-linked, syndromic 9
exact