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Prader-Willi syndrome due to translocation
ORPHA:177907 · Etiological subtype · Subtype of disorder
HPO 表現型（共 93 項）
Very frequent (99-80%)(4)
- Feeding difficulties in infancyHP:0008872
- ObesityHP:0001513
- Poor suckHP:0002033
- Weak cryHP:0001612
Frequent (79-30%)(18)
- Abnormal facial shapeHP:0001999
- Abnormal temper tantrumsHP:0025160
- Almond-shaped palpebral fissureHP:0007874
- Anterior pituitary hypoplasiaHP:0010627
- Decreased response to growth hormone stimulation testHP:0000824
- Downturned corners of mouthHP:0002714
- External genital hypoplasiaHP:0003241
- Hypogonadotropic hypogonadismHP:0000044
- Mild intellectual disabilityHP:0001256
- Narrow foreheadHP:0000341
- Neonatal hypotoniaHP:0001319
- Recurrent respiratory infectionsHP:0002205
- Respiratory distressHP:0002098
- Severe muscular hypotoniaHP:0006829
- Short footHP:0001773
- Short statureHP:0004322
- Small handHP:0200055
- Thin upper lip vermilionHP:0000219
Occasional (29-5%)(71)
- Abnormal heart morphologyHP:0001627
- Abnormal social behaviorHP:0012433
- Abnormality of the kidneyHP:0000077
- Absent speechHP:0001344
- Alveolar ridge overgrowthHP:0009085
- Anteverted naresHP:0000463
- AnxietyHP:0000739
- Attention deficit hyperactivity disorderHP:0007018
- Atypical behaviorHP:0000708
- Bifid uvulaHP:0000193
- Bilateral talipes equinovarusHP:0001776
- BrachydactylyHP:0001156
- Broad nasal tipHP:0000455
- Carious teethHP:0000670
- Cerebral cortical atrophyHP:0002120
- Cerebral visual impairmentHP:0100704
- Cleft palateHP:0000175
- ClinodactylyHP:0030084
- Clinodactyly of the 4th fingerHP:0040025
- Clinodactyly of the 5th fingerHP:0004209
- Compulsive behaviorsHP:0000722
- Deeply set eyeHP:0000490
- Delayed speech and language developmentHP:0000750
- Everted lower lip vermilionHP:0000232
- Flat occiputHP:0005469
- Global developmental delayHP:0001263
- Happy demeanorHP:0040082
- Head-bangingHP:0012168
- High palateHP:0000218
- HypermetropiaHP:0000540
- Hypernasal speechHP:0001611
- Hyperpigmentation of the skinHP:0000953
- HyperreflexiaHP:0001347
- HypertelorismHP:0000316
- Hypopigmentation of hairHP:0005599
- Hypopigmentation of the skinHP:0001010
- HyporeflexiaHP:0001265
- HypotelorismHP:0000601
- Intrauterine growth retardationHP:0001511
- Iris hypopigmentationHP:0007730
- Lateral ventricle dilatationHP:0006956
- MicrocephalyHP:0000252
- Microdontia of primary teethHP:0006347
- MicrognathiaHP:0000347
- Motor stereotypyHP:0000733
- MyopiaHP:0000545
- Narrow nasal bridgeHP:0000446
- Nasogastric tube feeding in infancyHP:0011470
- OligohydramniosHP:0001562
- Overlapping toeHP:0001845
- Patent ductus arteriosusHP:0001643
- Patent foramen ovaleHP:0001655
- Pes planusHP:0001763
- Preauricular skin tagHP:0000384
- Prominent noseHP:0000448
- ProptosisHP:0000520
- Reduced social responsivenessHP:0012760
- RetrognathiaHP:0000278
- ScoliosisHP:0002650
- SeizureHP:0001250
- Severe intellectual disabilityHP:0010864
- Short neckHP:0000470
- Short noseHP:0003196
- Skin-pickingHP:0012166
- Stellate irisHP:0012775
- StrabismusHP:0000486
- Triangular-shaped open mouthHP:0200096
- Underdeveloped nasolabial foldHP:0010801
- Upslanted palpebral fissureHP:0000582
- Wide mouthHP:0000154
- Widened subarachnoid spaceHP:0012704