Keyphrases
Clinical Characteristics
100%
Autism
100%
Molecular Characteristics
100%
Developmental Epilepsy
100%
Developmental Disorders
100%
PPP2CA
100%
Loss Function
50%
Autistic Traits
50%
Developmental Delay
50%
Protein Phosphatase 2A (PP2A)
50%
Carboxyl Terminus
25%
Seizure
25%
Absent Corpus Callosum
25%
Moderate to Severe
25%
Genetic Disease
25%
Dominant Negative
25%
Biochemical Characterization
25%
Pathogenicity
25%
Disease Mechanisms
25%
Missense Variants
25%
Hypotonia
25%
Methylation
25%
Neurodevelopmental Disorders
25%
Protein Phosphatase
25%
Brain MRI
25%
Full-scale IQ
25%
Head Circumference
25%
Amino Acid Substitution
25%
Partial Loss
25%
Clinical Spectrum
25%
PPP2R1A
25%
De-novo mutations
25%
Long Head
25%
Molecular Variants
25%
Seizure Behavior
25%
Facial Dysmorphology
25%
Molecular Spectra
25%
2A Protein
25%
Dysmorphic Facial Features
25%
Overlapping Features
25%
PPP2R5D
25%
C Subunit
25%
Neuroscience
C-Terminus
100%
Corpus Callosum
100%
Behavior (Neuroscience)
100%
Hypotonia
100%
Magnetic Resonance Imaging of Brain
100%
Amino Acid Substitution
100%
Phosphoprotein Phosphatase 2A
100%
Methylation
100%
Biochemistry, Genetics and Molecular Biology
Genetic Disorder
100%
C-Terminus
100%
Missense
100%
Methylation
100%
Amino Acid Substitution
100%
Phosphoprotein Phosphatase
100%