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Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Disease definition

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.

ORPHA:284169

Classification level: Subtype of disorder
  • Synonym(s):
    • 10p12p11 microdeletion syndrome
    • Del(10)(p11.21p12.31)
    • Deletion 10p11.21p12.31
    • Monosomy 10p11.21p12.31
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy
  • ICD-10: Q93.5
  • OMIM: 616708
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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