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Monosomy 18q

Disease definition

Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.

ORPHA:1600

  • Synonym(s):
    • 18q deletion syndrome
    • 18q- syndrome
    • Deletion 18q
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q93.5
  • OMIM: 601808
  • UMLS: C0432443  C2931249
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public

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