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DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Disease definition

A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.

ORPHA:268261

Classification level: Subtype of disorder
  • Synonym(s):
    • 21q22.13q22.2 microdeletion syndrome
    • Del(21)(q22.13q22.2)
    • Monosomy 21q22.13q22.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • ICD-11: LD44.M
  • OMIM: 614104
  • UMLS: C5191008
  • MeSH: -
  • GARD: -
  • MedDRA: -

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

Detailed information

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Guidelines

Disease review articles

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

Additional information

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