Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
D002524:Cerebellar Ataxia / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D005133:Eye Movements; D005260:Female; D005808:Genes, Recessive; D005826:Genetics, Medical; D006801:Humans; D006985:Hyperventilation / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011011:Pneumoencephalography