← 返回搜尋
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
ORPHA:2204 · Clinical subtype · Subtype of disorder
HPO 表現型（共 14 項）
Very frequent (99-80%)(14)
- Abnormal cortical bone morphologyHP:0003103
- Abnormal limb bone morphologyHP:0002813
- Abnormality of neuronal migrationHP:0002269
- Abnormality of the urinary systemHP:0000079
- Aplasia/Hypoplasia of the lungsHP:0006703
- HepatomegalyHP:0002240
- Hydrops fetalisHP:0001789
- Increased bone mineral densityHP:0011001
- Limb undergrowthHP:0009826
- MicrocephalyHP:0000252
- PolyhydramniosHP:0001561
- Short statureHP:0004322
- Skeletal dysplasiaHP:0002652
- SplenomegalyHP:0001744