进行性脊椎干骺端发育不全-身材矮小-第四跖骨短-智力障碍综合征
ORPHA:457395· ICD-10 Q87.8· Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Infancy, Neonatal
ORPHA:457395· ICD-10 Q87.8· Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome