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Bangstad syndrome
ORPHA:1227 · Malformation syndrome · Disorder
HPO 表現型(共 21 項)
Very frequent (99-80%)(21)
- Abnormal testis morphologyHP:0000035
- Abnormality of the dentitionHP:0000164
- Abnormality of the parathyroid glandHP:0000828
- AtaxiaHP:0001251
- Convex nasal ridgeHP:0000444
- Deeply set eyeHP:0000490
- Deviation of fingerHP:0004097
- EEG abnormalityHP:0002353
- HyperinsulinemiaHP:0000842
- HypothyroidismHP:0000821
- Increased circulating cortisol levelHP:0003118
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- MicrocephalyHP:0000252
- Narrow faceHP:0000275
- Polycystic ovariesHP:0000147
- Primary gonadal insufficiencyHP:0008193
- SeizureHP:0001250
- Short statureHP:0004322
- Sloping foreheadHP:0000340
- Type I diabetes mellitusHP:0100651