Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry

Keyphrases

• SETD5 100%
• Phenotypic Spectrum 100%
• Brain Gene Registry 100%
• Clinical Features 42%
• ICD-10 28%
• Billing Codes 28%
• Patient Cohort 14%
• Frameshift 14%
• Gene Transcription 14%
• True Prevalence 14%
• Novel Phenotypes 14%
• Haploinsufficiency 14%
• Brain Abnormalities 14%
• Clinical Documentation 14%
• Medical Conditions 14%
• Cerebral Palsy 14%
• Histone Modification 14%
• Molecular Diagnostics 14%
• Nonsense 14%
• Number of Participants 14%
• Genotype-phenotype Association 14%
• Musculoskeletal Abnormalities 14%
• Splice Site 14%
• Electronic Health Records 14%
• Novel Genotype 14%
• Standardized Survey 14%
• Manual Review 14%
• Pathogenic Variants 14%
• Genotype Association 14%

Biochemistry, Genetics and Molecular Biology

• ICD-10 100%
• Genotyping 50%
• Genetic Transcription 50%
• Intellectual Disability 50%
• Prevalence 50%
• Histone Modification 50%
• Haploinsufficiency 50%
• Electronic Health Record 50%

Medicine and Dentistry

• Diseases 100%
• Clinical Feature 42%
• Billing 28%
• ICD-10 28%
• Prevalence 14%
• Genetic Transcription 14%
• Spastic Diplegia 14%
• Molecular Diagnosis 14%
• Haploinsufficiency 14%
• Electronic Health Record 14%
• Musculoskeletal System Malformation 14%
• Intellectual Disability 14%
• Histone Modification 14%