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

Paternal uniparental disomy of chromosome 6

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

Shallow orbits

Reduced depth of the orbits associated with prominent-appearing ocular globes.

Total: 0

(per page)

PMID (PMCID)