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Acrootoocular syndrome
ORPHA:2980 · Malformation syndrome · Disorder
HPO 表現型（共 42 項）
Frequent (79-30%)(41)
- Abnormal earlobe morphologyHP:0000363
- Abnormal finger flexion creaseHP:0006143
- Abnormality of facial musculatureHP:0000301
- AnodontiaHP:0000674
- Atresia of the external auditory canalHP:0000413
- BlepharophimosisHP:0000581
- Choking episodesHP:0030842
- Conductive hearing impairmentHP:0000405
- Cutaneous syndactylyHP:0012725
- Decreased palmar creasesHP:0006184
- Decreased response to growth hormone stimulation testHP:0000824
- Delayed eruption of teethHP:0000684
- Delayed skeletal maturationHP:0002750
- Dental malocclusionHP:0000689
- Downslanted palpebral fissuresHP:0000494
- EpicanthusHP:0000286
- Failure to thriveHP:0001508
- Grayish enamelHP:0000683
- High, narrow palateHP:0002705
- Hyperpigmented neviHP:0007481
- HypotelorismHP:0000601
- KyphoscoliosisHP:0002751
- Low-set earsHP:0000369
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Palmar hyperkeratosisHP:0010765
- Pectus excavatumHP:0000767
- Prominent calcaneusHP:0012428
- PseudopapilledemaHP:0000538
- Sandal gapHP:0001852
- Sensorineural hearing impairmentHP:0000407
- Short fingerHP:0009381
- Short footHP:0001773
- Short metacarpalHP:0010049
- Short statureHP:0004322
- Short toeHP:0001831
- Small for gestational ageHP:0001518
- Small hypothenar eminenceHP:0010487
- Small thenar eminenceHP:0001245
- Supernumerary toothHP:0011069
- Wide nasal baseHP:0012810
Excluded (0%)(1)
- Intellectual disabilityHP:0001249