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Aymé-Gripp syndrome

ORPHA:1272 · Malformation syndrome · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(4)

  • Flat faceHP:0012368
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Postnatal growth retardationHP:0008897

Frequent (79-30%)(40)

  • Asymmetric crying faceHP:0011333
  • Bilateral ptosisHP:0001488
  • BrachycephalyHP:0000248
  • CamptodactylyHP:0012385
  • CataractHP:0000518
  • Cerebral cortical atrophyHP:0002120
  • Chiari type I malformationHP:0007099
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Developmental cataractHP:0000519
  • Downslanted palpebral fissuresHP:0000494
  • EEG abnormalityHP:0002353
  • Floppy infantHP:0008947
  • High foreheadHP:0000348
  • HydrocephalusHP:0000238
  • HypertelorismHP:0000316
  • Large fontanellesHP:0000239
  • Limitation of joint mobilityHP:0001376
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • MicrotiaHP:0008551
  • Narrow mouthHP:0000160
  • OligodontiaHP:0000677
  • PlagiocephalyHP:0001357
  • Posteriorly rotated earsHP:0000358
  • Prominent metopic ridgeHP:0005487
  • Rocker bottom footHP:0001838
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Shallow orbitsHP:0000586
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Sparse scalp hairHP:0002209
  • Tapered fingerHP:0001182
  • Thin upper lip vermilionHP:0000219
  • Upslanted palpebral fissureHP:0000582
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505

Occasional (29-5%)(22)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal thorax morphologyHP:0000765
  • Breast hypoplasiaHP:0003187
  • Congenital diaphragmatic herniaHP:0000776
  • CraniosynostosisHP:0001363
  • Delayed cranial suture closureHP:0000270
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • GlaucomaHP:0000501
  • Hypoplasia of the corpus callosumHP:0002079
  • Inguinal herniaHP:0000023
  • J-shaped sella turcicaHP:0002680
  • Long eyelashesHP:0000527
  • MegalocorneaHP:0000485
  • Patent ductus arteriosusHP:0001643
  • Pericardial effusionHP:0001698
  • PericarditisHP:0001701
  • ProteinuriaHP:0000093
  • Radioulnar synostosisHP:0002974
  • Reduced arm spanHP:0012770
  • ScoliosisHP:0002650
  • Stenosis of the external auditory canalHP:0000402
  • Supernumerary ribsHP:0005815