Keyphrases
Intellectual Disability
95%
Developmental Delay
95%
Neurodevelopmental Disorders
51%
Familial Mediterranean Fever
46%
Pathogenic Variants
44%
Duplication
40%
Autism
39%
Missense Variants
38%
Molecular Characterization
36%
Hypotonia
35%
Phenotypic Characterization
30%
Microdeletion
29%
Gain-of-function mutation
29%
Phenotypic Spectrum
27%
Exome Sequencing
26%
Congenital Anomalies
26%
Related Disorders
25%
Seizure
25%
Biallelic
24%
Dysmorphic Features
24%
Proband
24%
Behavioral Abnormalities
22%
Genotype-phenotype Correlation
22%
M694V
21%
Clinical Characterization
21%
Microcephaly
20%
X-linked
19%
Epilepsy
19%
Behavior Problems
19%
16p11.2
18%
Loss Function
18%
Copy number Variation
18%
Novel mutation
17%
Autosomal Recessive
17%
Haploinsufficiency
16%
Genotype
16%
Facial Gestalt
16%
Clinical Features
15%
Neurobehavioral Phenotype
15%
Autosomal Dominant
15%
Genetic Disease
15%
Clinical Phenotype
14%
Autism Spectrum Disorder
14%
Behavioral Phenotype
14%
CHRNA7
13%
De-novo mutations
13%
Global Developmental Delay
13%
Obesity
13%
Microdeletion Syndrome
13%
Hypomorphic mutation
13%
Biochemistry, Genetics and Molecular Biology
Intellectual Disability
100%
Missense
65%
Exome Sequencing
55%
Genetics
54%
Proband
44%
Fibroblast
37%
Allele
33%
Genomics
31%
MEFV
25%
Penetrance
24%
Exon
24%
Haploinsufficiency
23%
Autosomal Dominant Inheritance
22%
Genotype Phenotype Correlation
22%
Enzyme
20%
Germ Cell
20%
Germline
20%
Prevalence
19%
Problem Behavior
19%
Microdeletion Syndrome
18%
Autosomal Recessive Inheritance
18%
CHRNA7
16%
Array Comparative Genomic Hybridization
16%
Homozygote
16%
Low Copy Repeats
15%
Genetic Disorder
15%
Dysplasia
15%
Methylation
15%
Wild Type
14%
Missense Mutation
14%
Gene Mutation
13%
Zebra Fish
13%
Amyloidosis
13%
Gain of Function Mutation
12%
DNMT3A
12%
Homologous Recombination
12%
Cytogenetics
12%
Mosaicism
12%
Infancy
11%
Magnetic Resonance Imaging
11%
Gamma-Aminobutyric Acid
11%
Mitochondrial Disorder
11%
Autosomal Recessive Disorder
11%
Blood Plasma
10%
Genotyping
10%
Anabolism
9%
Homeostasis
9%
Genome Sequencing
9%
Comparative Genomic Hybridization
9%
Amino Acids
9%
Medicine and Dentistry
Developmental Delay
29%
Diseases
26%
Epileptic Seizure
18%
Familial Mediterranean Fever
12%
Gain of Function Mutation
12%
Neoplasm
12%
Congenital Malformation
12%
Hypotonia
12%
Exome Sequencing
11%
Dysmorphic Feature
10%
Diagnosis
10%
Genetic Disorder
10%
Disorders of Mitochondrial Functions
9%
Sclerosis
9%
Hypoplasia
9%
Tracheobronchomalacia
8%
Osteopathia striata
8%
Human Genetics
8%
Dysplasia
8%
Anoctamin
8%
Marfan Syndrome
8%
Brain Disease
8%
Microcephaly
7%
Allele
7%
Endosome
6%
Respiratory Distress
6%
Prevalence
6%
Autosomal Dominant Inheritance
6%
Disease Predisposition
6%
Physical Examination
6%
Connective Tissue
5%
Wheeze
5%
Fracture
5%
Neurodegeneration
5%
Disease
5%
Whole Genome Sequencing
5%
Contracture
5%
Family History
5%
Wilms' Tumor
5%
Brain Abnormalities
5%
Degenerative Disease
5%
Cognition
5%
