Keyphrases
Intellectual Disability
98%
Developmental Delay
98%
Neurodevelopmental Disorders
51%
Familial Mediterranean Fever
47%
Pathogenic Variants
46%
Autism
40%
Missense Variants
39%
Duplication
38%
Molecular Characterization
37%
Hypotonia
36%
Phenotypic Characterization
31%
Microdeletion
30%
Phenotypic Spectrum
28%
Exome Sequencing
27%
Congenital Anomalies
27%
Related Disorders
26%
Seizure
26%
Gain-of-function mutation
26%
Biallelic
25%
Dysmorphic Features
25%
Proband
25%
Behavioral Abnormalities
23%
Genotype-phenotype Correlation
22%
M694V
22%
Clinical Characterization
22%
Microcephaly
21%
X-linked
19%
Epilepsy
19%
Behavior Problems
19%
16p11.2
19%
Copy number Variation
18%
Loss Function
18%
Novel mutation
18%
Autosomal Recessive
17%
Genotype
17%
Haploinsufficiency
16%
Facial Gestalt
16%
Neurobehavioral Phenotype
16%
Clinical Features
16%
Autosomal Dominant
15%
Genetic Disease
15%
Clinical Phenotype
15%
Autism Spectrum Disorder
14%
Behavioral Phenotype
14%
CHRNA7
14%
De-novo mutations
14%
Global Developmental Delay
14%
Obesity
13%
Hypomorphic mutation
13%
Microdeletion Syndrome
13%
Biochemistry, Genetics and Molecular Biology
Intellectual Disability
100%
Missense
67%
Exome Sequencing
57%
Genetics
56%
Proband
41%
Fibroblast
35%
Allele
34%
Penetrance
26%
MEFV
25%
Enzyme
24%
Exon
23%
Haploinsufficiency
23%
Genotype Phenotype Correlation
23%
Autosomal Dominant Inheritance
21%
Germ Cell
20%
Germline
20%
Prevalence
20%
Problem Behavior
19%
Microdeletion Syndrome
19%
Autosomal Recessive Inheritance
18%
CHRNA7
17%
Array Comparative Genomic Hybridization
16%
Homozygote
16%
Low Copy Repeats
16%
Dysplasia
15%
Methylation
15%
Wild Type
15%
Mouse
14%
Missense Mutation
14%
Gene Mutation
14%
Zebra Fish
14%
Amyloidosis
13%
Gain of Function Mutation
12%
DNMT3A
12%
Homologous Recombination
12%
Infancy
12%
Mitochondrial Disorder
11%
Cytogenetics
11%
Genotyping
10%
Anabolism
10%
Autosomal Recessive Disorder
10%
Homeostasis
9%
Amino Acids
9%
Comparative Genomic Hybridization
9%
Transcription
9%
Body Height
9%
Exome
9%
Intron
9%
Computer Model
8%
Molecular Genetics
8%
Medicine and Dentistry
Disease
32%
Developmental Delay
30%
Epileptic Seizure
19%
Familial Mediterranean Fever
12%
Gain of Function Mutation
12%
Neoplasm
12%
Congenital Malformation
12%
Hypotonia
12%
Exome Sequencing
11%
Dysmorphic Feature
11%
Disorders of Mitochondrial Functions
10%
Sclerosis
9%
Hypoplasia
9%
Tracheobronchomalacia
8%
Osteopathia striata
8%
Human Genetics
8%
Dysplasia
8%
Anoctamin
8%
Marfan Syndrome
8%
Brain Disease
8%
Diagnosis
8%
Microcephaly
7%
Pervasive Developmental Disorder
7%
Allele
7%
Endosome
7%
Respiratory Distress
7%
Prevalence
7%
Symptom
7%
Autosomal Dominant Inheritance
6%
Disease Predisposition
6%
Genetic Disorder
6%
Physical Examination
6%
Connective Tissue
5%
Wheeze
5%
Fracture
5%
Neurodegeneration
5%
Whole Genome Sequencing
5%
Contracture
5%
Family History
5%
Wilms' Tumor
5%
Cognition
5%
Brain Abnormalities
5%
Degenerative Disease
5%
Growth Hormone
5%
