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Qazi-Markouizos syndrome

Disease definition

Qazi-Markouizos 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.

ORPHA:3010

  • Synonym(s):
    • Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 600096
  • UMLS: C2931142
  • MeSH: C536259
  • GARD: 371
  • MedDRA: -

Additional information

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