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Distal 17p13.3 microdeletion syndrome

Disease definition

Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.

ORPHA:261257

  • Synonym(s):
    • Distal del(17)(p13.3 )
    • Distal monosomy 17p13.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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