A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

Keyphrases

• Cortical Cataract 100%
• Malformations of Cortical Development 100%
• DYNC1H1 Gene 100%
• DYNC1H1 100%
• Neurological Phenotype 50%
• Ocular Development 50%
• Gray Matter Volume 50%
• Likely Pathogenic Variant 50%
• Bilateral Cataract 50%
• Gray Matter Heterotopia 50%
• Cytoplasmic Dynein 50%
• Motor Domain 50%
• Cortical Malformation 50%

Biochemistry, Genetics and Molecular Biology

• DYNC1H1 100%
• Lissencephaly 33%