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.

Hemiatrophy of upper limb

Unilateral atrophy (reduction in size) of an arm.

Total: 0

(per page)

PMID (PMCID)