Keyphrases
Arab Muslim
18%
Ashkenazi
17%
Ashkenazi Jews
26%
Autosomal Dominant
17%
Autosomal Recessive
48%
Clinical Features
25%
Compound Heterozygous mutation
21%
Congenital Heart Defects
30%
Consanguineous Family
20%
Deafness
20%
Developmental Delay
35%
Disease Progression
17%
Enzyme Replacement Therapy
17%
Exome Sequencing
35%
Fabry Disease
23%
Facial Features
24%
Fetus
47%
Gene mutation
21%
Genetic Disease
21%
Genetic Testing
21%
Global Developmental Delay
24%
Haploinsufficiency
17%
Hearing Impairment
31%
Intellectual Disability
85%
Israel
49%
Jewish
28%
Jewish Patients
18%
Jewish Population
22%
Kabuki Syndrome
21%
Kindred
18%
Lysosomal Storage Disease
44%
Microcephaly
33%
Missense Variants
22%
Monogenic
17%
Mucolipidosis
39%
Mucolipidosis Type IV
47%
N-acetylglucosamine-1-phosphotransferase
16%
Neurodevelopmental Disorders
41%
Novel mutation
18%
Pathogenic Variants
25%
Phenotypic Spectrum
17%
Phosphotransferase
17%
Prenatal Diagnosis
51%
Proband
25%
Psychomotor Retardation
17%
Radiological Findings
16%
Short Stature
41%
Skeletal Dysplasia
17%
Spondyloepiphyseal Dysplasia
31%
Whole Exome Sequencing
34%
Biochemistry, Genetics and Molecular Biology
Allele
11%
Autophagy
15%
Autosomal Dominant Inheritance
37%
Autosomal Recessive Inheritance
42%
Body Height
35%
Burst Suppression
11%
Candidate Gene
19%
Clinical Study
10%
Codon
9%
Consanguinity
10%
Cytogenetics
15%
Dideoxynucleotide Sequencing
9%
Dysplasia
40%
Enzyme
40%
Epigenetics
11%
Exome
16%
Exome Sequencing
78%
Exon
21%
Facial Expression
15%
Fibroblast
21%
Gene Mutation
20%
Genetic Counseling
19%
Genetic Disorder
26%
Genetic Mechanism
11%
Genetic Screening
19%
Genetics
64%
Genomics
15%
Glutamic Acid
15%
Haploinsufficiency
22%
Haplotype
23%
Infancy
10%
Intellectual Disability
86%
Kinase
33%
Lysosomal Storage Disease
15%
Mannose 6-Phosphate
10%
Medical Genetics
9%
Missense
53%
Mosaicism
14%
Mucolipidosis
42%
Mucolipidosis Type IV
31%
N-Acetylglucosamine
15%
N-Acetyltransferase
15%
Penetrance
10%
Phosphotransferase
33%
Prevalence
9%
Proband
19%
Protein Complexes
9%
Pseudo-Hurler Polydystrophy
30%
Roberts Syndrome
15%
Ubiquitination
15%
Medicine and Dentistry
Aplasia
11%
Autosomal Recessive Inheritance
30%
Bone Dysplasia
16%
Brachydactyly
11%
Brain Disease
16%
Burst Suppression
11%
Clinical Feature
18%
Clinical Genetics
13%
Clinical Study
15%
Congenital Heart Defect
19%
Congenital Malformation
29%
Congenital Nephrotic Syndrome
11%
Developmental Delay
23%
Disease
27%
Diseases
100%
Dysplasia
24%
Ectrodactyly
15%
Enzyme Replacement Therapy
15%
Epileptic Seizure
16%
Exome Sequencing
42%
Facies
21%
Gene Mutation
24%
Genetic Counseling
11%
Genetic Disorder
19%
Genetic Screening
14%
Glutamic Acid
15%
Hearing Impairment
27%
Heart Disease
12%
Hypogonadism
11%
Hypoplasia
14%
Intellectual and Developmental Disabilities
18%
Kabuki Syndrome
15%
Limb
15%
Lymphedema
10%
Lysosomal Storage Disease
16%
Microcephaly
22%
Milroy's Disease
15%
Mucolipidosis Type IV
31%
Mucopolysaccharidosis
15%
Nephrotic Syndrome
16%
Neurodevelopmental Disorder
11%
Pediatrics
27%
Pelvis
11%
Prenatal Diagnosis
46%
Radiological Finding
11%
Rare Disease
16%
Short Stature
33%
Single Nucleotide Polymorphism
15%
Thrombocytopenia
13%
Ventriculomegaly
11%
