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Stimmler syndrome
ORPHA:3199 · Malformation syndrome · Disorder
HPO 表現型（共 9 項）
Very frequent (99-80%)(9)
- Abnormal dental enamel morphologyHP:0000682
- AminoaciduriaHP:0003355
- AtaxiaHP:0001251
- Intrauterine growth retardationHP:0001511
- MicrocephalyHP:0000252
- MicrodontiaHP:0000691
- Severe intellectual disabilityHP:0010864
- Short statureHP:0004322
- Type II diabetes mellitusHP:0005978