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Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

ORPHA:1236 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(19)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of movementHP:0100022
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Broad thumbHP:0011304
  • Cognitive impairmentHP:0100543
  • Dimple chinHP:0010751
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • HypodontiaHP:0000668
  • Hypoplasia of the ear cartilageHP:0100720
  • Large earlobeHP:0009748
  • MicrocephalyHP:0000252
  • ScoliosisHP:0002650
  • Supernumerary nippleHP:0002558
  • TelecanthusHP:0000506
  • Tessier cleftHP:0002006

Frequent (79-30%)(13)

  • Abnormal palate morphologyHP:0000174
  • Abnormal thorax morphologyHP:0000765
  • Blue scleraeHP:0000592
  • Camptodactyly of fingerHP:0100490
  • Facial asymmetryHP:0000324
  • Iris colobomaHP:0000612
  • Lip pitHP:0100267
  • Mandibular prognathiaHP:0000303
  • MicrophthalmiaHP:0000568
  • Preauricular skin tagHP:0000384
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Tapered fingerHP:0001182