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Marshall syndrome
ORPHA:560 · Malformation syndrome · Disorder
HPO 表現型（共 42 項）
Very frequent (99-80%)(19)
- Abnormality of the dentitionHP:0000164
- Anteverted naresHP:0000463
- ArthralgiaHP:0002829
- BrachycephalyHP:0000248
- CataractHP:0000518
- Depressed nasal bridgeHP:0005280
- Flat faceHP:0012368
- HypertelorismHP:0000316
- Hypoplasia of the zygomatic boneHP:0010669
- Long philtrumHP:0000343
- Malar flatteningHP:0000272
- MicrognathiaHP:0000347
- MyopiaHP:0000545
- Sensorineural hearing impairmentHP:0000407
- Short noseHP:0003196
- Short statureHP:0004322
- Thick lower lip vermilionHP:0000179
- Thick upper lip vermilionHP:0000215
- Wide nasal bridgeHP:0000431
Frequent (79-30%)(17)
- Abnormal vitreous humor morphologyHP:0004327
- AmblyopiaHP:0000646
- Cerebral calcificationHP:0002514
- Cleft palateHP:0000175
- Ectopia lentisHP:0001083
- Genu valgumHP:0002857
- GlaucomaHP:0000501
- HypohidrosisHP:0000966
- Hypoplasia of the maxillaHP:0000327
- Hypoplastic frontal sinusesHP:0002738
- OsteoarthritisHP:0002758
- ProptosisHP:0000520
- Retinal detachmentHP:0000541
- Sparse hairHP:0008070
- Thickened calvariaHP:0002684
- Visual impairmentHP:0000505
- VitreoretinopathyHP:0007773
Occasional (29-5%)(6)
- Frontal bossingHP:0002007
- High palateHP:0000218
- NystagmusHP:0000639
- Sparse eyebrowHP:0045075
- Sparse eyelashesHP:0000653
- StrabismusHP:0000486