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Silver-Russell syndrome
ORPHA:813 · Disease · Disorder
HPO 表現型（共 53 項）
Very frequent (99-80%)(10)
- Blue scleraeHP:0000592
- CachexiaHP:0004326
- Feeding difficultiesHP:0011968
- Intrauterine growth retardationHP:0001511
- Low-set earsHP:0000369
- Postnatal growth retardationHP:0008897
- Prominent foreheadHP:0011220
- Relative macrocephalyHP:0004482
- Short statureHP:0004322
- Triangular faceHP:0000325
Frequent (79-30%)(29)
- Abnormal appendicular skeleton morphologyHP:0011844
- Abnormal male external genitalia morphologyHP:0000032
- Abnormality of the calcaneusHP:0008364
- Abnormally high-pitched voiceHP:0001620
- ArthralgiaHP:0002829
- Asymmetric growthHP:0100555
- Clinodactyly of the 5th fingerHP:0004209
- ConstipationHP:0002019
- CryptorchidismHP:0000028
- Decreased muscle massHP:0003199
- Decreased testicular sizeHP:0008734
- Delayed cranial suture closureHP:0000270
- Delayed skeletal maturationHP:0002750
- Dental crowdingHP:0000678
- Downturned corners of mouthHP:0002714
- Failure to thrive in infancyHP:0001531
- Gastroesophageal refluxHP:0002020
- Insulin resistanceHP:0000855
- Lower limb asymmetryHP:0100559
- MicrognathiaHP:0000347
- Motor delayHP:0001270
- Posteriorly rotated earsHP:0000358
- Premature adrenarcheHP:0012412
- Premature birthHP:0001622
- Recurrent hypoglycemiaHP:0001988
- Shoulder dimpleHP:0010782
- Sleep disturbanceHP:0002360
- Thin vermilion borderHP:0000233
- Upper limb asymmetryHP:0100560
Occasional (29-5%)(14)
- Abnormal vagina morphologyHP:0000142
- Abnormality of the cardiovascular systemHP:0001626
- Abnormality of the urinary systemHP:0000079
- Autistic behaviorHP:0000729
- Cafe-au-lait spotHP:0000957
- Generalized neonatal hypotoniaHP:0008935
- HyperhidrosisHP:0000975
- HypospadiasHP:0000047
- Mild intellectual disabilityHP:0001256
- ObesityHP:0001513
- Precocious pubertyHP:0000826
- Sandal gapHP:0001852
- ScoliosisHP:0002650
- Secondary microcephalyHP:0005484