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Oculodentodigital dysplasia
ORPHA:2710 · Malformation syndrome · Disorder
HPO 表現型（共 83 項）
Very frequent (99-80%)(14)
- Abnormal dental enamel morphologyHP:0000682
- Abnormality of the earHP:0000598
- Abnormality of the noseHP:0000366
- Broad columellaHP:0010761
- Carious teethHP:0000670
- Cleft palateHP:0000175
- Clinodactyly of the 5th fingerHP:0004209
- Finger syndactylyHP:0006101
- MicrocorneaHP:0000482
- Narrow nasal bridgeHP:0000446
- Premature loss of primary teethHP:0006323
- Toe syndactylyHP:0001770
- Tooth agenesisHP:0009804
- Underdeveloped nasal alaeHP:0000430
Frequent (79-30%)(42)
- Abnormal cortical bone morphologyHP:0003103
- Abnormal fingernail morphologyHP:0001231
- Abnormal metaphysis morphologyHP:0000944
- Abnormal nail morphologyHP:0001597
- Abnormal pinna morphologyHP:0000377
- Abnormality of the eyeHP:0000478
- Abnormality of visionHP:0000504
- Anteverted naresHP:0000463
- Aplasia/Hypoplasia of the cerebellumHP:0007360
- Aplasia/Hypoplasia of the middle phalanges of the handHP:0009843
- AtaxiaHP:0001251
- Broad alveolar ridgesHP:0000187
- Camptodactyly of fingerHP:0100490
- CataractHP:0000518
- Cerebral calcificationHP:0002514
- ClinodactylyHP:0030084
- Conductive hearing impairmentHP:0000405
- Cranial hyperostosisHP:0004437
- Curly hairHP:0002212
- DysarthriaHP:0001260
- Gait disturbanceHP:0001288
- GlaucomaHP:0000501
- High foreheadHP:0000348
- High hypermetropiaHP:0008499
- HyperostosisHP:0100774
- HyperreflexiaHP:0001347
- HypertelorismHP:0000316
- HypotelorismHP:0000601
- Mandibular prognathiaHP:0000303
- Median cleft upper lipHP:0000161
- Mild global developmental delayHP:0011342
- Muscle weaknessHP:0001324
- MyopiaHP:0000545
- Neurogenic bladderHP:0000011
- Optic atrophyHP:0000648
- SeizureHP:0001250
- Short noseHP:0003196
- Slow-growing hairHP:0002217
- Sparse hairHP:0008070
- Spastic paraparesisHP:0002313
- SpasticityHP:0001257
- Visual impairmentHP:0000505
Occasional (29-5%)(27)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal clavicle morphologyHP:0000889
- Abnormal diaphysis morphologyHP:0000940
- Abnormal vertebral body morphologyHP:0003312
- Abnormality iris morphologyHP:0000525
- ArrhythmiaHP:0011675
- BrachydactylyHP:0001156
- Brittle hairHP:0002299
- Deeply set eyeHP:0000490
- EpicanthusHP:0000286
- Fine hairHP:0002213
- Hand polydactylyHP:0001161
- Hearing impairmentHP:0000365
- HypoglycemiaHP:0001943
- Intellectual disabilityHP:0001249
- Madelung deformityHP:0003067
- MicrognathiaHP:0000347
- Non-midline cleft of the upper lipHP:0100335
- NystagmusHP:0000639
- Palmoplantar keratodermaHP:0000982
- Preaxial hand polydactylyHP:0001177
- Short halluxHP:0010109
- StrabismusHP:0000486
- TaurodontiaHP:0000679
- Umbilical herniaHP:0001537
- Upslanted palpebral fissureHP:0000582
- Ventricular septal defectHP:0001629