Also Known As
Cabezas syndromeCabezas syndrome; syndromic X-linked intellectual disability 15Cabezas syndrome; syndromic X-linked mental retardation 15MRSSMRXS15MRXSCX-linked intellectual disability with short statureX-linked intellectual disability with short stature, hypogonadism, and abnormal gaitX-linked intellectual disability, Cabezas typeX-linked mental retardation with short statureX-linked mental retardation with short stature, hypogonadism, and abnormal gaitintellectual disability, X-linked, syndromic 15 (Cabezas type)intellectual disability, X-linked, with short staturemental retardation, X-linked, syndromic 15 (Cabezas type)mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessivemental retardation, X-linked, with short staturesyndromic X-linked intellectual disability Cabezas typeCabezas type of X-linked syndromic intellectual disabilityCul4B-related X-linked intellectual disabilityintellectual disability, X-linked, syndromic 15intellectual disability, X-linked, syndromic, Cabezas typeintellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gaitmental retardation, X-linked, syndromic 15mental retardation, X-linked, syndromic, Cabezas typemental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait
Definition
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.