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9q31.1q31.3 microdeletion syndrome
ORPHA:401923 · Malformation syndrome · Disorder
HPO 表現型（共 22 項）
Frequent (79-30%)(22)
- Abnormal facial shapeHP:0001999
- Aortic regurgitationHP:0001659
- Bicuspid aortic valveHP:0001647
- Broad chinHP:0011822
- Broad nasal tipHP:0000455
- Cervical kyphosisHP:0002947
- Dilated cardiomyopathyHP:0001644
- Flat faceHP:0012368
- Highly arched eyebrowHP:0002553
- HypercholesterolemiaHP:0003124
- Mandibular prognathiaHP:0000303
- Mild global developmental delayHP:0011342
- Mild intellectual disabilityHP:0001256
- OverweightHP:0025502
- Renovascular hypertensionHP:0100817
- Short claviclesHP:0000894
- Short neckHP:0000470
- Short statureHP:0004322
- Small handHP:0200055
- Tapered fingerHP:0001182
- Thick hairHP:0100874
- Type II diabetes mellitusHP:0005978