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Paternal uniparental disomy of chromosome 1 syndrome
ORPHA:251004 · Malformation syndrome · Disorder
HPO 表現型（共 29 項）
Frequent (79-30%)(29)
- Abnormal blistering of the skinHP:0008066
- Abnormal dental enamel morphologyHP:0000682
- Abnormal retinal morphology on macular OCTHP:0030612
- AnhidrosisHP:0000970
- Brain atrophyHP:0012444
- CraniosynostosisHP:0001363
- Delayed pubertyHP:0000823
- DyschromatopsiaHP:0007641
- Enlarged kidneyHP:0000105
- Episodic hemolytic anemiaHP:0004802
- HypercalcemiaHP:0003072
- HypertensionHP:0000822
- Increased blood urea nitrogenHP:0003138
- Macroscopic hematuriaHP:0012587
- Macular dystrophyHP:0007754
- Membranoproliferative glomerulonephritisHP:0000793
- MyoclonusHP:0001336
- Neonatal hypotoniaHP:0001319
- ObesityHP:0001513
- Pain insensitivityHP:0007021
- PhotophobiaHP:0000613
- PolyphagiaHP:0002591
- Progressive psychomotor deteriorationHP:0007272
- Progressive visual lossHP:0000529
- ProteinuriaHP:0000093
- Recurrent fracturesHP:0002757
- SeizureHP:0001250
- Short statureHP:0004322
- StrabismusHP:0000486