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Keyphrases
SHANK3
50%
22q11.2 Deletion Syndrome
50%
Genotype-phenotype Correlation
50%
Autistic Traits
50%
Autism Spectrum Disorder
22%
Dysmorphic Features
16%
Hypotonia
16%
Social-emotional Reciprocity
16%
Seizure
11%
Gastroesophageal Reflux
11%
Behavioral Spectrum
8%
Clinical Treatment
5%
Neurodevelopmental Disorders
5%
Phelan-McDermid Syndrome
5%
Intellectual Disability
5%
Critical Genes
5%
Neurological Features
5%
Recurring
5%
Abnormal EEG
5%
Behavioral Aspects
5%
Treatment Development
5%
Haploinsufficiency
5%
Social Communication Deficits
5%
Autistic Disorder
5%
Neurologist
5%
Clinical Monitoring
5%
Motor Impairment
5%
Brain MRI
5%
Medical Comorbidity
5%
Gait Disturbance
5%
Autism Diagnostic Observation Schedule
5%
Intellectual Impairment
5%
Cognitive Deficits
5%
Behavioral Deficits
5%
Point mutation
5%
Speech Features
5%
Large Deletion
5%
Behavioral Profile
5%
Severe Intellectual Disability
5%
Clinical Geneticist
5%
Medical Profile
5%
Prospective Design
5%
Small Deletion
5%
Deletion mutation
5%
Study Support
5%
Speech Impairment
5%
Child Psychiatrists
5%
Autism
5%
Geneticists
5%
22q13 Deletion
5%
Biochemistry, Genetics and Molecular Biology
22q13 Deletion Syndrome
100%
SHANK3
71%
Deficiency
50%
Genotype-Phenotype Correlation
50%
Intellectual Disability
25%
Whole Genome Sequencing
7%
Array Comparative Genomic Hybridization
7%
Chromosome 22q
7%
Medical Genetics
7%
Exome
7%
Comorbidity
5%
Haploinsufficiency
5%
Magnetic Resonance Imaging
5%
Point Mutation
5%
Clinical Trial
5%
Electroencephalography
5%
Gait
5%
Medicine and Dentistry
22q13 Deletion Syndrome
50%
Pervasive Developmental Disorder
28%
Intellectual Disability
14%
Orphan Disorder
7%
Exome
7%
Developmental Delay
7%
Chromosome 22q
7%
Brain Abnormalities
7%
Dysmorphology
7%
Gastrointestinal Distress
7%
Odontogenic Infection
7%
Lymphedema
7%
Array Comparative Genomic Hybridization
7%
Whole Genome Sequencing
7%
Genetics
7%
Epileptic Seizure
7%