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.

合計: 0

（表示件数）

PMID (PMCID)