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Lowry-MacLean syndrome

ORPHA:2409 · Malformation syndrome · Disorder

HPO 表現型（共 52 項）

Frequent (79-30%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the abdominal organsHP:0002012
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Convex nasal ridgeHP:0000444
  • CraniosynostosisHP:0001363
  • Delayed eruption of primary teethHP:0000680
  • Developmental glaucomaHP:0001087
  • Downslanted palpebral fissuresHP:0000494
  • Growth delayHP:0001510
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • ProptosisHP:0000520
  • Severe global developmental delayHP:0011344

Occasional (29-5%)(35)

  • Abnormality of the genital systemHP:0000078
  • Abnormality of the supraorbital ridgesHP:0100538
  • Atrioventricular canal defectHP:0006695
  • Bilateral cryptorchidismHP:0008689
  • Blue scleraeHP:0000592
  • Choanal atresiaHP:0000453
  • Coarctation of aortaHP:0001680
  • Corneal opacityHP:0007957
  • Craniofacial dysostosisHP:0004439
  • Dermoid cystHP:0025247
  • Downturned corners of mouthHP:0002714
  • ExotropiaHP:0000577
  • Generalized hypertrichosisHP:0004554
  • HemiparesisHP:0001269
  • High foreheadHP:0000348
  • High, narrow palateHP:0002705
  • HydrocephalusHP:0000238
  • Hypoplasia of the maxillaHP:0000327
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • MegalocorneaHP:0000485
  • MicrognathiaHP:0000347
  • Midgut malrotationHP:0005211
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Pyloric stenosisHP:0002021
  • RetrognathiaHP:0000278
  • Short nasal bridgeHP:0003194
  • Short noseHP:0003196
  • Single transverse palmar creaseHP:0000954
  • Small anterior fontanelleHP:0000237
  • Talon cuspHP:0011087
  • TrigonocephalyHP:0000243
  • Visual lossHP:0000572
  • Widely patent coronal sutureHP:0005442

Very rare (<4-1%)(1)

  • SeizureHP:0001250