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Partington syndrome

Disease definition

Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.

ORPHA:94083

Classification level: Disorder
  • Synonym(s):
    • Partington-Mulley syndrome
    • X-linked intellectual disability-dystonia-dysarthria syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: G93.4
  • ICD-11: LD90.Y
  • OMIM: 309510
  • UMLS: C0796250
  • MeSH: C536300
  • GARD: 4235
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.