syndromic X-linked intellectual disability Shashi type
X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXS11
exact
SMRXS
exact
Shashi X-linked intellectual disability syndrome
exact
Shashi X-linked mental retardation syndrome
exact
X-linked intellectual disability Shashi type
exact
intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive
exact
intellectual disability X-linked Shashi type
related
intellectual disability X-linked syndromic 11
related
intellectual disability, X-linked, syndromic 11
related
intellectual disability, X-linked, syndromic 11, Shashi type
exact
mental retardation X-linked Shashi type
related
mental retardation X-linked syndromic 11
related
mental retardation, X-linked, Shashi type
related
mental retardation, X-linked, syndromic 11
related
syndromic X-linked intellectual disability type 11
exact