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Microcephalic primordial dwarfism, Montreal type
ORPHA:2617 · Malformation syndrome · Disorder
HPO 表現型（共 30 項）
Very frequent (99-80%)(30)
- Abnormal dermatoglyphicsHP:0007477
- Abnormal hair quantityHP:0011362
- Abnormal palate morphologyHP:0000174
- Alopecia of scalpHP:0002293
- Carious teethHP:0000670
- Congenital pyloric atresiaHP:0004399
- Convex nasal ridgeHP:0000444
- CryptorchidismHP:0000028
- Dry skinHP:0000958
- EEG abnormalityHP:0002353
- HyperhidrosisHP:0000975
- HyperreflexiaHP:0001347
- HypertoniaHP:0001276
- Intellectual disabilityHP:0001249
- KyphosisHP:0002808
- LipoatrophyHP:0100578
- Low posterior hairlineHP:0002162
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Open biteHP:0010807
- Posteriorly rotated earsHP:0000358
- Premature graying of hairHP:0002216
- Prematurely aged appearanceHP:0007495
- PtosisHP:0000508
- Reduced bone mineral densityHP:0004349
- ScoliosisHP:0002650
- Severe short statureHP:0003510
- Shagreen patchHP:0009721
- Vertebral segmentation defectHP:0003422
- Wide intermamillary distanceHP:0006610