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Hao-Fountain syndrome due to 16p13.2 microdeletion

Disease definition

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.

ORPHA:500055

Classification level: Subtype of disorder
  • Synonym(s):
    • Chromosome 16p13.2 deletion syndrome
    • Del(16)(p13.2)
    • Monosomy 16p13.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Childhood
  • ICD-10: Q93.5
  • OMIM: 616863
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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Further information on this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.