Disease association ontology term - MONDO:0010306 - X-linked intellectual disability, Cabezas type
Term summary
- ID
- MONDO:0010306
- Name
- X-linked intellectual disability, Cabezas type
- Ontology or CV name
- Disease association
- 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.
