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Trisomy 5p syndrome
ORPHA:1742 · Malformation syndrome · Disorder
HPO 表現型（共 17 項）
Very frequent (99-80%)(17)
- Abnormal metacarpal morphologyHP:0005916
- Abnormality of chromosome segregationHP:0002916
- Developmental regressionHP:0002376
- DolichocephalyHP:0000268
- Frontal bossingHP:0002007
- HypertelorismHP:0000316
- Hypoplasia of penisHP:0008736
- MacrocephalyHP:0000256
- ObesityHP:0001513
- Protruding earHP:0000411
- PtosisHP:0000508
- Renal hypoplasia/aplasiaHP:0008678
- Round faceHP:0000311
- ScoliosisHP:0002650
- Severe intellectual disabilityHP:0010864
- Short statureHP:0004322
- VentriculomegalyHP:0002119