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

Aicardi-Goutières syndrome

An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

Eyelid coloboma

A short discontinuity of the margin of the lower or upper eyelid.

合計: 0

（表示件数）

PMID (PMCID)