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

Laurence-Moon syndrome

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Hand polydactyly

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.

Total: 0

(per page)

PMID (PMCID)