spondyloepimetaphysäre Dysplasie - kurze Extremitäten - anormale Kalzifizierung
short limb-hand type Spondylometaepiphyseal dysplasia
OMIM: 271665
Synonyme
- SMED-SL SHORT LIMB-HAND TYPE SMED
- TYPE II SMED
- SHORT LIMB-ABNORMAL CALCIFICATION TYPE SPONDYLOMETAEPIPHYSEAL DYSPLASIA
- SHORT LIMB-ABNORMAL CALCIFICATION TYPE SMED
- SMED-SL/AC
Genorte
- DDR2(OMIM 191311)