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