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20q11.2 microdeletion syndrome

ORPHA:444051 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Obligate (100%)(2)

  • Deeply set eyeHP:0000490
  • Global developmental delayHP:0001263

Very frequent (99-80%)(2)

  • High foreheadHP:0000348
  • Intrauterine growth retardationHP:0001511

Frequent (79-30%)(13)

  • Abnormality of the earHP:0000598
  • Abnormality of the eyeHP:0000478
  • Atypical behaviorHP:0000708
  • Brainstem dysplasiaHP:0002508
  • CamptodactylyHP:0012385
  • Finger clinodactylyHP:0040019
  • Frontal bossingHP:0002007
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Midface retrusionHP:0011800
  • Short philtrumHP:0000322
  • Talipes calcaneovalgusHP:0001884

Occasional (29-5%)(2)

  • Adducted thumbHP:0001181
  • BrachydactylyHP:0001156