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Cutaneous mastocytosis-deafness-microtia syndrome
ORPHA:2135 · Malformation syndrome · Disorder
HPO 表現型（共 52 項）
Very frequent (99-80%)(31)
- Abdominal painHP:0002027
- Abnormal skin pigmentationHP:0001000
- AreflexiaHP:0001284
- Camptodactyly of fingerHP:0100490
- Clinodactyly of the 5th fingerHP:0004209
- Conductive hearing impairmentHP:0000405
- Delayed cranial suture closureHP:0000270
- ErythemaHP:0010783
- Failure to thriveHP:0001508
- Generalized hyperpigmentationHP:0007440
- Hearing impairmentHP:0000365
- High palateHP:0000218
- HypotoniaHP:0001252
- Irregular hyperpigmentationHP:0007400
- MaculeHP:0012733
- MastocytosisHP:0100495
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- MicrotiaHP:0008551
- Optic atrophyHP:0000648
- PapuleHP:0200034
- ProptosisHP:0000520
- PruritusHP:0000989
- SeizureHP:0001250
- Short statureHP:0004322
- Subcutaneous noduleHP:0001482
- Thick lower lip vermilionHP:0000179
- Triangular faceHP:0000325
- Upslanted palpebral fissureHP:0000582
- UrticariaHP:0001025
- VentriculomegalyHP:0002119
Occasional (29-5%)(21)
- Abnormality of the skeletal systemHP:0000924
- ArrhythmiaHP:0011675
- FatigueHP:0012378
- HypotensionHP:0002615
- Immunologic hypersensitivityHP:0100326
- Intellectual disabilityHP:0001249
- IrritabilityHP:0000737
- LichenificationHP:0100725
- Long noseHP:0003189
- Lower limb asymmetryHP:0100559
- PneumoniaHP:0002090
- Prominent supraorbital ridgesHP:0000336
- Respiratory insufficiencyHP:0002093
- ScoliosisHP:0002650
- Severe global developmental delayHP:0011344
- Skin vesicleHP:0200037
- Telangiectasia of the skinHP:0100585
- Thickened skinHP:0001072
- VomitingHP:0002013
- Wide nasal bridgeHP:0000431
- Wide noseHP:0000445