The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Keyphrases

• Neurodevelopmental Disorders 100%
• Clinical Spectrum 100%
• Molecular Spectra 100%
• QRICH1 100%
• Seizure 40%
• Structural Brain Abnormalities 40%
• Hypotonia 40%
• Scoliosis 40%
• Short Stature 40%
• Poor Weight Gain 40%
• Clinical Features 20%
• Glutamine 20%
• Endoplasmic Reticulum Stress (ER stress) 20%
• Moderate to Severe 20%
• Intellectual Disability 20%
• Missense Variants 20%
• Autism Spectrum Disorder 20%
• Developmental Delay 20%
• Phenotypic Spectrum 20%
• Transcriptional Control 20%
• Brain Imaging 20%
• Inherited Variants 20%
• Proteostasis 20%
• Splice Variant 20%
• Additional Findings 20%
• Truncating Variant 20%
• Facial Dysmorphism 20%
• Variable Expressivity 20%
• People with Intellectual Disabilities 20%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Body Height 100%
• Glutamine 50%
• Endoplasmic Reticulum Stress 50%
• Synapsin I 50%
• Missense 50%
• Protein Homeostasis 50%