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Dysosteosclerosis
ORPHA:1782 · Malformation syndrome · Disorder
HPO 表現型（共 22 項）
Very frequent (99-80%)(21)
- Abnormal cranial nerve morphologyHP:0001291
- Abnormal dental enamel morphologyHP:0000682
- Abnormal metaphysis morphologyHP:0000944
- Cerebral calcificationHP:0002514
- Coarse metaphyseal trabecularizationHP:0100670
- Craniofacial hyperostosisHP:0004493
- Delayed eruption of teethHP:0000684
- Developmental regressionHP:0002376
- Hearing impairmentHP:0000365
- HypertelorismHP:0000316
- Hypoplastic vertebral bodiesHP:0008479
- Increased bone mineral densityHP:0011001
- Intellectual disabilityHP:0001249
- Irregular vertebral endplatesHP:0003301
- MacrocephalyHP:0000256
- NystagmusHP:0000639
- Optic atrophyHP:0000648
- PlatyspondylyHP:0000926
- Recurrent fracturesHP:0002757
- Short statureHP:0004322
- Ventricular septal defectHP:0001629
Frequent (79-30%)(1)
- Aplasia/Hypoplasia of the skinHP:0008065