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

Aicardi syndrome

A rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.

Missing ribs

A developmental anomaly with absence of one or more ribs.

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PMID (PMCID)