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

1q44 microdeletion syndrome

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Preaxial polydactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.

合計: 0

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PMID (PMCID)