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

Autosomal recessive centronuclear myopathy

An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Retrognathia

An abnormality in which the mandible is mislocalised posteriorly.

Total: 0

(per page)

PMID (PMCID)