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Nicolaides-Baraitser syndrome

ORPHA:3051 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(22)

  • Abnormal metacarpal morphologyHP:0005916
  • AlopeciaHP:0001596
  • Anteverted naresHP:0000463
  • AphasiaHP:0002381
  • BrachydactylyHP:0001156
  • EcholaliaHP:0010529
  • Everted lower lip vermilionHP:0000232
  • Global developmental delayHP:0001263
  • High, narrow palateHP:0002705
  • Intellectual disabilityHP:0001249
  • Joint dislocationHP:0001373
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • MutismHP:0002300
  • Short palmHP:0004279
  • Smooth philtrumHP:0000319
  • Sparse hairHP:0008070
  • Specific learning disabilityHP:0001328
  • Thick nasal alaeHP:0009928
  • Thin vermilion borderHP:0000233
  • Triangular faceHP:0000325
  • Wide mouthHP:0000154

Frequent (79-30%)(22)

  • Abnormal finger morphologyHP:0001167
  • Abnormal hair patternHP:0010720
  • Abnormal testis morphologyHP:0000035
  • BlepharophimosisHP:0000581
  • Broad distal phalanx of fingerHP:0009836
  • Clubbing of toesHP:0100760
  • CryptorchidismHP:0000028
  • Curly eyelashesHP:0007665
  • Eczematoid dermatitisHP:0000964
  • Epileptic spasmHP:0011097
  • Excessive wrinkled skinHP:0007392
  • Generalized non-motor (absence) seizureHP:0002121
  • Highly arched eyebrowHP:0002553
  • Long eyelashesHP:0000527
  • Narrow nasal bridgeHP:0000446
  • Sandal gapHP:0001852
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Severe short statureHP:0003510
  • Short palpebral fissureHP:0012745
  • Status epilepticusHP:0002133
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(6)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal epiphysis morphologyHP:0005930
  • Accelerated skeletal maturationHP:0005616
  • Delayed skeletal maturationHP:0002750
  • Downslanted palpebral fissuresHP:0000494
  • HerniaHP:0100790