Medicine & Life Sciences
Phenotype
100%
Agenesis of Cerebellar Vermis
87%
Genes
77%
Haploinsufficiency
70%
Microcephaly
67%
Exome
66%
Otofaciocervical Syndrome
64%
Transfer RNA
60%
Intellectual Disability
59%
Polyps
56%
Brain Diseases
56%
Epilepsy
52%
Hereditary Nonpolyposis Colorectal Neoplasms
48%
Cerebellar Hypoplasia
48%
Retinal Dystrophies
47%
Periventricular Nodular Heterotopia
46%
Ataxia
45%
Adenomatous Polyposis Coli
45%
Myoclonic dystonia
44%
Pseudouridine
44%
Smith-Lemli-Opitz Syndrome
44%
Mutation
40%
Cyclin-Dependent Kinase 5
40%
Metaplasia
40%
Cerebral Amyloid Angiopathy
38%
Presenilin-1
38%
Polyneuropathies
37%
Dysphonia
35%
High-Throughput Nucleotide Sequencing
35%
Italy
33%
Neurodevelopmental Disorders
32%
Congenital Heart Defects
32%
CDKL5 deficiency disorder
31%
Codon
31%
Movement Disorders
30%
Genotype
29%
Apraxia, oculomotor, Cogan type
28%
Turcot syndrome
27%
Peutz-Jeghers Syndrome
27%
Pediatrics
26%
Atypical Rett Syndrome
25%
Dystonic Disorders
25%
Cost-Benefit Analysis
23%
Myoclonus
23%
Cognitive Dysfunction
22%
Anhidrotic Ectodermal Dysplasia 1
22%
Paris
22%
Whole Exome Sequencing
21%
Muscle Hypotonia
21%
ADP-Ribosylation Factors
21%