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

Aase-Smith syndrome

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.

Aplasia/Hypoplasia of the radius

A small/hypoplastic or absent/aplastic radius.

Total: 0

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PMID (PMCID)