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Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

ORPHA:3224 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(16)

  • Abnormal cerebellar vermis morphologyHP:0002334
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal nasal morphologyHP:0005105
  • Cerebellar hypoplasiaHP:0001321
  • Cerebral cortical atrophyHP:0002120
  • Facial asymmetryHP:0000324
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • Pes cavusHP:0001761
  • Posteriorly rotated earsHP:0000358
  • Prominent foreheadHP:0011220
  • Protruding earHP:0000411
  • Sensorineural hearing impairmentHP:0000407
  • VentriculomegalyHP:0002119

Frequent (79-30%)(12)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal speech patternHP:0002167
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the dentitionHP:0000164
  • AlopeciaHP:0001596
  • EpicanthusHP:0000286
  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • Short halluxHP:0010109
  • Supernumerary nippleHP:0002558
  • Toe syndactylyHP:0001770
  • Truncal obesityHP:0001956