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

Iniencephaly

Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.

Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

Total: 0

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PMID (PMCID)