Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

Keyphrases

• Autism Spectrum Disorder 100%
• ARHGEF9 100%
• Intellectual Disability 42%
• Clinical Features 14%
• Point mutation 14%
• Inhibitory Receptors 14%
• Neurocognitive Function 14%
• Spontaneous Excitatory Postsynaptic Current (sEPSC) 14%
• Related Disorders 14%
• Glycine 14%
• Behavior Disorders 14%
• Young Female 14%
• Pathophysiological Mechanisms 14%
• Chromosomal Deletion 14%
• Language Delay 14%
• Chromosomal Rearrangements 14%
• γ-aminobutyric Acid 14%
• Receptor Clusters 14%
• Phenotypic Spectrum 14%
• Chromosomal Microarray 14%
• Collybistin 14%
• Gephyrin 14%
• Synaptic Clustering 14%
• Hyperekplexia 14%
• Infantile Epileptic Encephalopathy 14%
• Female Autism 14%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Microarrays 33%
• Point Mutation 33%
• Cognition 33%
• Chromosomal Rearrangement 33%
• GABA Receptor 33%
• Gephyrin 33%
• Collybistin 33%

Neuroscience

• Pervasive Developmental Disorder 100%
• Point Mutation 25%
• Microarrays 25%
• Behavior Disorder 25%
• GABA Receptor 25%
• Speech Delay 25%
• Gephyrin 25%
• Receptor 25%
• Brain Disease 25%