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Xp21 deletion syndrome

Disease definition

A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.

ORPHA:261476

Classification level: Disorder
  • Synonym(s):
    • Complex GKD
    • Complex glycerol kinase deficiency
    • Del(X)(p21)
    • Xp21 contiguous gene deletion syndrome
    • Xp21 microdeletion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 300679
  • UMLS: C0795887
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

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.