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

Rhombencephalosynapsis

Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.

Microretrognathia

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.

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PMID (PMCID)