A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

Keyphrases

• Intellectual Disability 100%
• Syndromic Intellectual Disability 100%
• TELO2 100%
• TTT Complex 100%
• Phosphoinositide 3-kinase (PI3K) 40%
• Protein Kinase 40%
• Loss Function 20%
• Autosomal Recessive 20%
• Compound Heterozygous mutation 20%
• Kinase Function 20%
• Fibroblasts 20%
• Steady State 20%
• Missense Variants 20%
• Cellular Assay 20%
• Congenital Abnormalities 20%
• Complex Stability 20%
• Co-chaperone 20%
• Complex Causes 20%
• Syndromic Form 20%
• TTI1 20%
• TTI2 20%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Protein Kinases 66%
• Phosphoinositide 3-Kinase 66%
• Maturation 33%
• Steady State 33%
• Missense 33%
• Autosomal Recessive Inheritance 33%
• Co-Chaperone 33%
• Fibroblast 33%