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Distal 16p11.2 microdeletion syndrome

Disease definition

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

ORPHA:261222

Classification level: Disorder
  • Synonym(s):
    • Distal del(16)(p11.2)
    • Distal monosomy 16p11.2
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q93.5
  • ICD-11: LD44.G1
  • OMIM: 613444
  • UMLS: C4518824
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Detailed information

General public

Guidelines

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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.