X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 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
Cabezas syndrome
exact
Cabezas syndrome; syndromic X-linked intellectual disability 15
exact
Cabezas type of X-linked syndromic intellectual disability
related
Cul4B-related X-linked intellectual disability
related
MRSS
exact
MRXS15
exact
MRXSC
exact
X-linked intellectual disability with short stature
exact
X-linked intellectual disability with short stature, hypogonadism, and abnormal gait
exact
X-linked intellectual disability, Cabezas type
exact
intellectual disability, X-linked, syndromic 15
related
intellectual disability, X-linked, syndromic 15 (Cabezas type)
exact
intellectual disability, X-linked, syndromic, Cabezas type
related
intellectual disability, X-linked, with short stature
exact
mental retardation, X-linked, syndromic 15
related
mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive
exact
mental retardation, X-linked, syndromic, Cabezas type
related
mental retardation, X-linked, with short stature
exact
mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait
related
syndromic X-linked intellectual disability Cabezas type
exact
SPAC3A11.08