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Distal 17p13.1 microdeletion syndrome

Disease definition

Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.

ORPHA:319171

  • Synonym(s):
    • Distal del(17)(p13.1)
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 10996
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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