Catalog

Spondyloepiphyseal dysplasia, Nishimura type

No MMS code

Link to WHO Definition

Spondyloepiphyseal dysplasia, Nishimura type – http://id.who.int/icd/entity/523290419

Spondyloepiphyseal dysplasia Nishimura type is characterised by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.

Parents

LD24.3 Spondyloepiphyseal or spondyloepimetaphyseal dysplasias
Syndromic conditions with disorders of intellectual development as a relevant clinical feature