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Skeletal dysplasia-epilepsy-short stature syndrome
ORPHA:1858 · Malformation syndrome · Disorder
HPO 表現型（共 15 項）
Very frequent (99-80%)(15)
- Abnormality of the dentitionHP:0000164
- BrachydactylyHP:0001156
- Dental malocclusionHP:0000689
- EEG abnormalityHP:0002353
- Hip dysplasiaHP:0001385
- Hypoplastic iliac wingHP:0002866
- Increased circulating IgE concentrationHP:0003212
- Intellectual disabilityHP:0001249
- KyphosisHP:0002808
- Mandibular prognathiaHP:0000303
- ScoliosisHP:0002650
- SeizureHP:0001250
- Short distal phalanx of fingerHP:0009882
- Short statureHP:0004322
- Skeletal dysplasiaHP:0002652