Medicine & Life Sciences
Phenotype
100%
Neurodevelopmental Disorders
92%
Whole Exome Sequencing
90%
Monosomy 2q24 Chromosome 2
88%
Muscle Hypotonia
87%
Epigenomics
83%
Neurologic Manifestations
79%
Autistic Disorder
78%
DNA Methylation
78%
Intellectual Disability
74%
Timothy syndrome
74%
Microcephaly
73%
Inborn Genetic Diseases
73%
Molybdenum cofactor deficiency
73%
Epilepsy
66%
CHARGE Syndrome
63%
ATP Binding Cassette Transporter, Subfamily B, Member 11
63%
Genes
62%
Whole Genome Sequencing
61%
Mucolipidoses
59%
Genome
59%
Fused Kidney
57%
Medicine
57%
Intrahepatic Cholestasis
56%
Medical Genetics
53%
HMGB1 Protein
52%
Spermidine
51%
Long QT Syndrome
51%
Secondary Hyperparathyroidism
48%
Protein Tyrosine Phosphatases
48%
Wilms Tumor
47%
Drug Resistant Epilepsy
45%
Cholestasis
44%
DNA-Binding Proteins
44%
molybdenum cofactor
43%
Glycosaminoglycans
42%
Proline
42%
Seizures
41%
Exome
40%
Attention Deficit Disorder with Hyperactivity
40%
Premature Infants
38%
Growth
37%
Names
37%
UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase
37%
Gingival Hypertrophy
34%
Ataxia
34%
Neurodegenerative Diseases
34%
Progressive familial intrahepatic 1 Cholestasis
32%
Haploinsufficiency
32%
Heart Diseases
32%