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1p36 deletion syndrome

Disease definition

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

ORPHA:1606

Classification level: Disorder
  • Synonym(s):
    • Del(1)(p36)
    • Deletion 1p36
    • Deletion 1pter
    • Monosomy 1p36
    • Monosomy 1pter
    • Subtelomeric 1p36 deletion
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q93.5
  • OMIM: 607872  616975
  • UMLS: C1842870
  • MeSH: -
  • GARD: 6082
  • MedDRA: -
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