Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Spondyloepiphyseal dysplasia, Nishimura type

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

Micrognathia

Developmental hypoplasia of the mandible.

合計: 0

（表示件数）

PMID (PMCID)