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AREDYLD syndrome
ORPHA:1133 · Malformation syndrome · Disorder
HPO 表現型（共 26 項）
Very frequent (99-80%)(26)
- Abnormal dental enamel morphologyHP:0000682
- Abnormal nasal morphologyHP:0005105
- Abnormal pelvic girdle bone morphologyHP:0002644
- Abnormal tragus morphologyHP:0009912
- Abnormality of the ureterHP:0000069
- Advanced eruption of teethHP:0006288
- Aplasia/Hypoplasia of the breastsHP:0010311
- Aplasia/Hypoplasia of the eyebrowHP:0100840
- BrachydactylyHP:0001156
- CachexiaHP:0004326
- Craniofacial hyperostosisHP:0004493
- HepatomegalyHP:0002240
- Intrauterine growth retardationHP:0001511
- LipoatrophyHP:0100578
- Mandibular prognathiaHP:0000303
- Narrow mouthHP:0000160
- Posteriorly rotated earsHP:0000358
- Refractory anemia with ringed sideroblastsHP:0004828
- ScoliosisHP:0002650
- Short statureHP:0004322
- Smooth philtrumHP:0000319
- Sparse body hairHP:0002231
- SplenomegalyHP:0001744
- Type I diabetes mellitusHP:0100651
- Type II diabetes mellitusHP:0005978
- Upslanted palpebral fissureHP:0000582