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Rhizomelic dysplasia, Patterson-Lowry type
ORPHA:2831 · Malformation syndrome · Disorder
HPO 表現型（共 17 項）
Very frequent (99-80%)(17)
- Abnormal vertebral body morphologyHP:0003312
- BrachydactylyHP:0001156
- Coxa varaHP:0002812
- Deformed humeral headsHP:0005687
- Depressed nasal ridgeHP:0000457
- Deviation of fingerHP:0004097
- EpicanthusHP:0000286
- Flat faceHP:0012368
- Genu valgumHP:0002857
- HyperlordosisHP:0003307
- Large faceHP:0100729
- Mandibular prognathiaHP:0000303
- RhizomeliaHP:0008905
- Short humerusHP:0005792
- Short metacarpalHP:0010049
- Short noseHP:0003196
- Wide noseHP:0000445