Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

MeSH terms

• Cerebellar Ataxia / genetics*
• Cerebellum / abnormalities*
• Child, Preschool
• Eye Movements*
• Female
• Genes, Recessive
• Genetics, Medical
• Humans
• Hyperventilation / genetics*
• Infant
• Intellectual Disability / genetics*
• Male
• Pedigree
• Pneumoencephalography