Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 1969.
Joubert
M
M
Eisenring
J J
JJ
Robb
J P
JP
Andermann
F
F
D002524:Cerebellar Ataxia / Q000235:genetics / Q000266:history*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D049673:History, 20th Century; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000266:history*; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics / Q000266:history*; D010375:Pedigree; D012120:Respiration Disorders / Q000235:genetics / Q000266:history*; D013577:Syndrome