De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Keyphrases

• Intellectual Disability 100%
• Epilepsy 100%
• Developmental Delay 100%
• Dysmorphism 100%
• Coloboma 100%
• WDR37 100%
• Cerebellar Hypoplasia 100%
• Proband 60%
• Gal4 40%
• WD40 40%
• Drosophilidae 20%
• Non-associated 20%
• Eukaryotes 20%
• Functional Insight 20%
• Seizure 20%
• Pediatric 20%
• Amino Acids 20%
• Human Disease 20%
• Human Subjects 20%
• Orthologs 20%
• Complementary DNA (cDNA) 20%
• Protein Family 20%
• Large Families 20%
• Coding Region 20%
• Abdomen 20%
• Grip Strength 20%
• Neurological Disorders 20%
• Vertebrate Model 20%
• Null Allele 20%
• Syndromic 20%
• CHARGE Syndrome 20%
• Human References 20%
• WD40 Repeat 20%
• Invertebrate Model 20%
• Copulation 20%
• Facial Dysmorphology 20%

Biochemistry, Genetics and Molecular Biology

• Proband 100%
• Intellectual Disability 100%
• WD40 Repeat 100%
• Eukaryote 33%
• Allele 33%
• Amino Acids 33%
• Orthology 33%
• Protein Family 33%
• Coding Region 33%
• Vertebrate Model 33%
• Null Allele 33%
• Grip Strength 33%
• Invertebrate Model 33%
• Homo sapiens 33%