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Floating-Harbor syndrome
ORPHA:2044 · Malformation syndrome · Disorder
HPO 表現型（共 79 項）
Very frequent (99-80%)(3)
- Short statureHP:0004322
- Small for gestational ageHP:0001518
- Speech apraxiaHP:0011098
Frequent (79-30%)(10)
- Delayed skeletal maturationHP:0002750
- Delayed speech and language developmentHP:0000750
- Growth delayHP:0001510
- Mild intellectual disabilityHP:0001256
- Moderate intellectual disabilityHP:0002342
- Shield chestHP:0000914
- Short neckHP:0000470
- StrabismusHP:0000486
- Triangular faceHP:0000325
- Wide mouthHP:0000154
Occasional (29-5%)(55)
- 11 pairs of ribsHP:0000878
- Abnormal temper tantrumsHP:0025160
- Abnormally high-pitched voiceHP:0001620
- Absent speechHP:0001344
- Aggressive behaviorHP:0000718
- AnxietyHP:0000739
- Attention deficit hyperactivity disorderHP:0007018
- Avascular necrosis of the capital femoral epiphysisHP:0005743
- BrachydactylyHP:0001156
- Broad fingertipHP:0011300
- Broad nasal tipHP:0000455
- Broad-based gaitHP:0002136
- Carious teethHP:0000670
- ClinodactylyHP:0030084
- Compulsive behaviorsHP:0000722
- Conductive hearing impairmentHP:0000405
- Congenital posterior urethral valveHP:0010957
- ConstipationHP:0002019
- CryptorchidismHP:0000028
- Deeply set eyeHP:0000490
- Dilatation of the renal pelvisHP:0010946
- Dislocated radial headHP:0003083
- DysarthriaHP:0001260
- Enlarged jointsHP:0003037
- Epididymal cystHP:0030424
- Gastroesophageal refluxHP:0002020
- Hip dysplasiaHP:0001385
- Humeral pseudarthrosisHP:0003879
- HydronephrosisHP:0000126
- HypermetropiaHP:0000540
- Hypernasal speechHP:0001611
- Hypoplasia of the maxillaHP:0000327
- HypospadiasHP:0000047
- ImpulsivityHP:0100710
- KyphoscoliosisHP:0002751
- Long noseHP:0003189
- Low hanging columellaHP:0009765
- Low-set earsHP:0000369
- MicrodontiaHP:0000691
- Narrow nasal bridgeHP:0000446
- Nasogastric tube feedingHP:0040288
- NephrocalcinosisHP:0000121
- OligodontiaHP:0000677
- Persistence of primary teethHP:0006335
- Precocious pubertyHP:0000826
- Renal agenesisHP:0000104
- Renal cystHP:0000107
- RestlessnessHP:0000711
- SeizureHP:0001250
- Short attention spanHP:0000736
- Short claviclesHP:0000894
- Short metacarpalHP:0010049
- Short philtrumHP:0000322
- Short thumbHP:0009778
- VaricoceleHP:0012871
Very rare (<4-1%)(11)
- Abnormal anterior chamber morphologyHP:0000593
- Atrial septal defectHP:0001631
- Celiac diseaseHP:0002608
- Coarctation of aortaHP:0001680
- Cochlear malformationHP:0008554
- Gluten intoleranceHP:0012538
- MesocardiaHP:0011599
- Persistent left superior vena cavaHP:0005301
- Polycystic kidney dysplasiaHP:0000113
- Stage 5 chronic kidney diseaseHP:0003774
- Tetralogy of FallotHP:0001636