GATAD2B Gene microdeletion causing intellectual disability autosomal dominant type 18: Case report and review of the literature

Keyphrases

• Intellectual Disability 100%
• Autosomal Dominant 100%
• Microdeletion 100%
• GATAD2B 100%
• Clinical Characteristics 50%
• Chromosomal Microarray 50%
• SLC27A3 50%
• INTS3 50%
• Exon 25%
• Pathogenic Variants 25%
• Calves 25%
• Diagnosis Treatment 25%
• Language Delay 25%
• Genetic Counseling 25%
• Molecular Diagnostics 25%
• Haploinsufficiency 25%
• Genotype-phenotype Correlation 25%
• Emotional Instability 25%
• Clinical Prognosis 25%
• Older Female Patient 25%
• Genome Stability 25%
• Earlobe Crease 25%
• Hypoplastic 25%
• Psychomotor Delay 25%
• Autism Spectrum Disorder 25%
• Thumb 25%
• Novel CNV 25%
• Subunit 3 25%
• Dysmorphic Features 25%
• 1q21.3 25%
• Precise Diagnosis 25%
• Fatty Acid Transport 25%
• Hypotrophy 25%
• Integrator Complex 25%

Medicine and Dentistry

• Autosomal Dominant Inheritance 100%
• Array Comparative Genomic Hybridization 100%
• Exon 50%
• Language Delay 50%
• Genetic Counseling 50%
• Molecular Diagnosis 50%
• Mental Instability 50%
• Genomic Instability 50%
• Dysmorphic Feature 50%
• Haploinsufficiency 50%
• Fatty Acid Transporter 50%
• Patient with Intellectual Disability 50%
• Genotype Phenotype Correlation 50%
• Thumb 50%
• Hypotrophy 50%
• Pervasive Developmental Disorder 50%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Autosomal Dominant Inheritance 100%
• Array Comparative Genomic Hybridization 66%
• Exon 33%
• Haploinsufficiency 33%
• Genetic Counseling 33%
• Genome Instability 33%
• Genotype Phenotype Correlation 33%