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SATB2-associated syndrome due to a chromosomal rearrangement

ORPHA:251028

Classification level: Subtype of disorder
  • Synonym(s):
    • 2q33.1 microdeletion syndrome
    • Del(2)(q33.1)
    • Monosomy 2q33.1
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612313
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

This disease is described under SATB2-associated syndrome

  A summary on this disease is available in Japanese (2019, pdf)

Detailed information

General public

Guidelines

Disease review articles

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

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