Displasia spondiloepimetafisaria, tipo pachistano
ORPHA:93282· ICD-10 Q77.7· Spondyloepimetaphyseal dysplasia, PAPSS2 type
- Prevalenza
- <1 / 1 000 000
- Trasmissione
- Autosomal recessive
- Età di esordio
- Infancy, Neonatal
ORPHA:93282· ICD-10 Q77.7· Spondyloepimetaphyseal dysplasia, PAPSS2 type