Keyphrases
Arab Muslim
17%
Ashkenazi
15%
Ashkenazi Jews
23%
Autosomal Dominant
15%
Autosomal Recessive
43%
Clinical Features
23%
Compound Heterozygous mutation
19%
Congenital Heart Defects
26%
Consanguineous Family
18%
Deafness
18%
Developmental Delay
31%
Disease Progression
15%
Enzyme Replacement Therapy
15%
Exome Sequencing
31%
Fabry Disease
21%
Facial Features
21%
Fetus
38%
Gene mutation
18%
Genetic Disease
19%
Genetic Testing
19%
Hearing Impairment
28%
Infantile Epileptic Encephalopathy
14%
Intellectual Disability
68%
Israel
37%
Jewish
22%
Jewish Patients
16%
Jewish Population
20%
Kabuki Syndrome
19%
Kindred
16%
Lysosomal Storage Disease
39%
Microcephaly
23%
Missense Variants
16%
Monogenic
16%
Mucolipidosis
35%
Mucolipidosis Type IV
42%
N-acetylglucosamine-1-phosphotransferase
15%
Neurodevelopmental Disorders
33%
Novel mutation
16%
Pathogenic Variants
22%
Phenotypic Spectrum
15%
Phosphotransferase
15%
Prenatal Diagnosis
38%
Proband
21%
Psychomotor Retardation
16%
Radiological Findings
15%
Rare Diseases
14%
Short Stature
35%
Skeletal Dysplasia
15%
Spondyloepiphyseal Dysplasia
28%
Whole Exome Sequencing
30%
Biochemistry, Genetics and Molecular Biology
Acetyltransferase
14%
Acyltransferase
14%
Allele
8%
Autophagy
14%
Autosomal Dominant Inheritance
33%
Autosomal Recessive Inheritance
38%
Body Height
26%
Burst Suppression
14%
Candidate Gene
17%
Consanguinity
9%
Cytogenetics
18%
Dysplasia
36%
Eicosanoid Receptor
11%
Enzyme
36%
Epigenetics
8%
Exome
15%
Exome Sequencing
70%
Exon
19%
Facial Expression
14%
Fibroblast
20%
Gene Mutation
18%
Genetic Counseling
10%
Genetic Disorder
23%
Genetic Mechanism
10%
Genetic Screening
17%
Genetics
54%
Haploinsufficiency
14%
Haplotype
17%
Infancy
9%
Intellectual Disability
65%
Lysosomal Storage Disease
13%
Mannose 6-Phosphate
9%
Medical Genetics
8%
Microarrays
17%
Missense
30%
Missense Mutation
8%
Mosaicism
9%
Mucolipidosis
38%
Mucolipidosis Type IV
28%
Mucopolysaccharidosis
14%
N-Acetylglucosamine
13%
Penetrance
9%
Phenotype
8%
Phosphotransferase
29%
Prevalence
8%
Proband
15%
Pseudo-Hurler Polydystrophy
27%
Roberts Syndrome
14%
Sanger Sequencing
8%
Ubiquitination
14%
Medicine and Dentistry
Aplasia
10%
Autosomal Recessive Inheritance
26%
Bone Dysplasia
14%
Brachydactyly
10%
Brain Disease
14%
Burst Suppression
10%
Clinical Case Study
14%
Clinical Feature
14%
Clinical Genetics
12%
Congenital Heart Defect
14%
Congenital Malformation
27%
Congenital Nephrotic Syndrome
10%
Developmental Delay
14%
Diagnosis
21%
Disease
100%
Dysplasia
22%
Ectrodactyly
14%
Enzyme Replacement Therapy
14%
Epileptic Absence
9%
Epileptic Seizure
10%
Exome Sequencing
34%
Facies
16%
Gene Mutation
21%
Genetic Disorder
18%
Genetic Screening
11%
Glutamic Acid
14%
Hearing Impairment
26%
Heart Disease
10%
Hypogonadism
10%
Hypoplasia
12%
Kabuki Syndrome
14%
Limb
14%
Lymphedema
9%
Lysosomal Storage Disease
13%
Microcephaly
20%
Milroy's Disease
14%
Mucolipidosis Type IV
28%
Mucopolysaccharidosis
14%
Nephrotic Syndrome
13%
Pediatrics
23%
Pelvis
10%
Pregnancy
13%
Prenatal Diagnosis
34%
Radiological Finding
10%
Rare Disease
14%
Short Stature
30%
Skeleton Malformation
9%
Symptom
19%
Thrombocytopenia
11%
Ventriculomegaly
10%
