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Distal deletion 19p syndrome
ORPHA:96129 · Malformation syndrome · Disorder
HPO 表現型（共 23 項）
Very frequent (99-80%)(23)
- AlopeciaHP:0001596
- ArachnodactylyHP:0001166
- Cleft palateHP:0000175
- Conductive hearing impairmentHP:0000405
- Decreased circulating immunoglobulin concentrationHP:0004313
- Global developmental delayHP:0001263
- Hypoplasia of the maxillaHP:0000327
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Joint hypermobilityHP:0001382
- KeloidsHP:0010562
- Long faceHP:0000276
- Long toeHP:0010511
- Posteriorly rotated earsHP:0000358
- Pulmonary valve atresiaHP:0010882
- SeizureHP:0001250
- Sensorineural hearing impairmentHP:0000407
- Short philtrumHP:0000322
- Thick eyebrowHP:0000574
- Tricuspid valve prolapseHP:0001704
- Umbilical herniaHP:0001537
- Vaginal herniaHP:0100672
- Ventricular septal defectHP:0001629