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1q41q42 microdeletion syndrome

Disease definition

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.

ORPHA:250999

  • Synonym(s):
    • 1q41-q42 microdeletion syndrome
    • Del(1)(q41q42)
    • Monosomy 1q41-q42
    • Monosomy 1q41q42
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612530
  • UMLS: -
  • MeSH: -
  • GARD: 3738
  • MedDRA: -

Additional information

Further information on this disease

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