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Keyphrases
Intellectual Disability
82%
Neurodevelopmental Disorders
71%
Israel
59%
Prenatal Diagnosis
58%
Autosomal Recessive
58%
Mucolipidosis Type IV
56%
Fetus
55%
Lysosomal Storage Disease
53%
Short Stature
48%
Mucolipidosis
47%
Exome Sequencing
43%
Whole Exome Sequencing
42%
Developmental Delay
41%
Microcephaly
39%
Spondyloepiphyseal Dysplasia
37%
Congenital Heart Defects
36%
Hearing Impairment
35%
Genetic Disease
34%
Jews
34%
Pathogenic Variants
32%
Proband
32%
Ashkenazi Jews
31%
Global Developmental Delay
31%
Missense Variant
31%
Clinical Features
31%
Intellectual Developmental Disorder
28%
Gene mutation
28%
Fabry Disease
28%
Neurodevelopmental Syndrome
28%
Mucolipidosis Type III
28%
Developmental and Epileptic Encephalopathy
26%
Genetic Testing
26%
Kabuki Syndrome
26%
Consanguineous Family
25%
Phenotypic Spectrum
25%
Deafness
24%
Arab Muslim
23%
Compound Heterozygous mutation
23%
Novel mutation
22%
Jewish Patients
22%
Loss Function
22%
Kindred
21%
Psychomotor Retardation
21%
Haploinsufficiency
21%
Skeletal Dysplasia
21%
Autosomal Dominant
20%
Phosphotransferase
20%
Ashkenazi
20%
Enzyme Replacement Therapy
20%
Jewish Population
20%
Biochemistry, Genetics and Molecular Biology
Intellectual Disability
100%
Exome Sequencing
97%
Genetics
78%
Missense
76%
Autosomal Recessive Inheritance
58%
Mucolipidosis
51%
Dysplasia
48%
Deficiency
47%
Hearing
41%
Chromosome
40%
Phosphotransferase
39%
Kinase
39%
Mucolipidosis Type IV
37%
Pseudo-Hurler Polydystrophy
36%
Autosomal Dominant Inheritance
35%
Enzyme
34%
Exon
28%
Genetic Disorder
27%
Haploinsufficiency
26%
Fibroblast
25%
Body Height
25%
Gene Mutation
24%
Fruit Fly
23%
Proband
23%
Haplotype
23%
Genetic Screening
23%
Protease
20%
Optics
19%
Cytogenetics
18%
Roberts Syndrome
18%
Autophagy
18%
Facial Expression
18%
Ubiquitination
18%
N-Acetyltransferase
18%
Protein Quality Control
18%
Metabolic Pathway
18%
Hemispheric Dominance
18%
N-Acetylglucosamine
18%
Genomics
18%
Candidate Gene
17%
Inheritance
16%
Genetic Counseling
16%
Exome
14%
Genetic Mechanism
14%
Germline
14%
Germ Cell
14%
Allele
13%
Consanguinity
12%
Infancy
12%
Penetrance
12%
Medicine and Dentistry
Diseases
77%
Exome Sequencing
45%
Prenatal Diagnosis
45%
Autosomal Recessive Inheritance
39%
Hearing Impairment
39%
Short Stature
37%
Genetics
36%
Congenital Malformation
30%
Etiology
30%
Kabuki Syndrome
28%
Dysplasia
26%
Limb
25%
Facies
25%
Congenital Nephrotic Syndrome
23%
Genetic Disorder
22%
Pediatrics
21%
Intellectual Disability
20%
Enzyme Replacement Therapy
20%
Lysosomal Storage Disease
20%
Rare Disease
19%
Mucolipidosis Type IV
18%
Ectrodactyly
18%
Milroy's Disease
18%
Mucopolysaccharidosis
18%
Clinical Study
18%
Long-Term Outcome
18%
Microcephaly
18%
Nephrotic Syndrome
18%
Hypogonadism
17%
Bone Dysplasia
16%
Congenital Heart Defect
16%
Thrombocytopenia
16%
Adolescence
15%
Storage Disease
15%
Heart Disease
14%
Gene Mutation
14%
Hypoplasia
14%
Aplasia
14%
Brachydactyly
14%
Radiological Finding
14%
Osteoporosis
14%
Autosomal Dominant Inheritance
13%
Pelvis
13%
Developmental Delay
13%
Lymphedema
13%
Genetic Screening
12%
Skeleton Malformation
12%
Conductive Hearing Loss
12%
Pulmonary Hypertension
12%
Bone Morphogenetic Protein
12%
