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.

Also known as: Cabezas syndrome, Cabezas syndrome; syndromic X-linked intellectual disability 15, MRSS, MRXS15, MRXSC, X-linked intellectual disability with short stature, X-linked intellectual disability with short stature, hypogonadism, and abnormal gait, X-linked intellectual disability, Cabezas type

0 clinical trials for this condition and its sub-types, 0 tagged with X-linked intellectual disability, Cabezas type itself.