LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ

Keyphrases

• Missense mutation 100%
• Lissencephaly 100%
• LIS1 100%
• LIS1 Gene 50%
• Malformation 33%
• Clinical Features 16%
• Loss Function 16%
• Image Features 16%
• Agyria 16%
• Normal Intelligence 16%
• Pachygyria 16%
• Neuroblast Migration 16%
• Variable Phenotype 16%
• Mutation Type 16%
• Under-ascertainment 16%
• Clinical Sequelae 16%
• Mutation Data 16%
• Feature Data 16%
• Cortical Malformation 16%
• Phenotypic Spectrum 16%
• Neurological Problems 16%

Neuroscience

• Lissencephaly 100%
• Missense Mutation 100%
• Neuroblast 20%
• Cortical Malformation 20%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• Lissencephaly 100%
• Neuroblast 20%