intellectual disability, X-linked syndromic, Turner type
An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
Brooks Wisniewski Brown syndrome
exact
Brooks-Wisniewski-Brown Syndrome
exact
Brooks-Wisniewski-Brown syndrome
exact
MRXST
exact
X-linked intellectual disability, Turner type
exact
X-linked mental retardation Brooks type
related
intellectual disability, X-linked syndromic, Turner type
exact
mental retardation and macrocephaly syndrome
exact
mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism
related
mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type
related
mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type
related
mental retardation, X-linked, syndromic, Turner type
exact
SPAC19D5.04