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Xq21 microdeletion syndrome

Disease definition

An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.

ORPHA:1435

Classification level: Disorder
  • Synonym(s):
    • Ayazi syndrome
    • Del(X)(q21)
    • Monosomy Xq21
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q93.5
  • OMIM: 303110
  • UMLS: C1844836
  • MeSH: C537793
  • GARD: 369
  • MedDRA: -

  A summary on this disease is available in Deutsch (2005) Español (2014) Français (2014) Italiano (2014) Nederlands (2014)

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.