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Cabezas syndrome

Orpha number ORPHA85293
Synonym(s) X-linked intellectual deficit, Cabezas type
Prevalence <1 / 1 000 000
Inheritance
  • X-linked recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised 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 localised to the q24-q25 region of the X chromosome.


Last update: February 2007

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