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Qazi-Markouizos syndrome

ORPHA3010
Synonym(s) Dysharmonic skeletal maturation - muscular fiber disproportion
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Infancy
Neonatal
ICD-10 -
OMIM
UMLS
  • C2931142
MeSH
  • C536259
MedDRA -

Summary

This syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.


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