×
×
PubCaseFinder
About
Datasets
History
Terms
RDF
API
Contact
EN
/
JA
Joubert syndrome
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Highly arched eyebrow
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
合計:
0
20
40
60
100
(表示件数)
PMID (PMCID)