Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews

Keyphrases

• Intellectual Disability 100%
• Ashkenazi Jews 100%
• Neurodevelopmental Disorders 100%
• Founder Variant 100%
• SGSM3 100%
• Family Members 40%
• Short Stature 40%
• Ras Family 40%
• Moderate to Severe 20%
• Moderate Intellectual Disability 20%
• Loss Function 20%
• Jewish Population 20%
• Molecular Mechanism 20%
• Protein Structure 20%
• Protein Function 20%
• Neurodevelopmental 20%
• Proband 20%
• Global Developmental Delay 20%
• Growth Regulation 20%
• Prioritization Method 20%
• Small G Protein 20%
• Genetic Variability 20%
• International Collaboration 20%
• Clinical Variability 20%
• Hypotonia 20%
• Deleterious Variants 20%
• G Protein Signaling 20%
• Frameshift Variant 20%
• Signaling Modulators 20%
• Variant Prioritization 20%
• Trio Exome Sequencing 20%
• Behavioral Challenges 20%
• DNA Samples 20%

Biochemistry, Genetics and Molecular Biology

• Mental Retardation 100%
• Body Height 100%
• Proband 50%
• Genetic Divergence 50%
• Signaling Protein 50%
• G Protein 50%
• Protein Structure 50%
• Exome Sequencing 50%