Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

Medicine & Life Sciences

• Telomeric 22q13 Monosomy Syndrome 100%
• Autistic Disorder 55%
• Intellectual Disability 52%
• Exons 46%
• Language 44%
• Alleles 40%
• link protein 38%
• Post-Synaptic Density 37%
• Failure to Thrive 35%
• Neurotransmitter Receptor 34%
• Microcephaly 33%
• CpG Islands 33%
• Whole Exome Sequencing 33%
• Polymerase Chain Reaction 32%
• Neurodevelopmental Disorders 32%
• Inguinal Hernia 32%
• Sequence Deletion 31%
• Mutation 31%
• Fetal Growth Retardation 30%
• Ataxia 29%
• Constipation 28%
• Cytoskeleton 27%
• High-Throughput Nucleotide Sequencing 26%
• Synapses 25%
• Lower Extremity 22%
• Phenotype 16%
• Genes 11%