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Microcephalic osteodysplastic dysplasia, Saul-Wilson type
ORPHA:85172 · Disease · Disorder
HPO 表現型（共 16 項）
Very frequent (99-80%)(16)
- CataractHP:0000518
- Cone-shaped epiphyses of the phalanges of the handHP:0010230
- Convex nasal ridgeHP:0000444
- Frontal bossingHP:0002007
- Hypoplasia of the odontoid processHP:0003311
- Irregularity of vertebral bodiesHP:0004582
- Malar flatteningHP:0000272
- MicrocephalyHP:0000252
- Narrow nasal bridgeHP:0000446
- Overhanging nasal tipHP:0011833
- PlatyspondylyHP:0000926
- ProptosisHP:0000520
- Short palmHP:0004279
- Short statureHP:0004322
- Small handHP:0200055
- Talipes equinovarusHP:0001762