Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Medicine and Dentistry

• Joubert Syndrome 100%
• Diseases 88%
• Meckel Syndrome 44%
• Ciliopathy 33%
• Prevalence 22%
• Protein 11%
• Retinopathy 11%
• Molar Tooth 11%
• Primary Cilium 11%
• Mutation Rate 11%
• Coloboma 11%
• Midbrain 11%

Neuroscience

• Joubert Syndrome 100%
• Ciliopathy 33%
• Proteome 11%
• Primary Cilium 11%

Agricultural and Biological Sciences

• Mutation 55%
• Prevalence 22%
• Fetus 22%
• Proteins 11%
• Mutation Frequency 11%
• Protocerebrum 11%