Keyphrases
Acrocyanosis
20%
Acylglycines
20%
Agilent SureSelect
11%
Barx1
11%
Brain Ultrasound
16%
Cardiomyopathy Dilated
11%
CHARGE Syndrome
11%
CHD7
11%
Chromosome Karyotype
16%
Chromosome Microarray
16%
ClinVar
20%
COX4I1
100%
Deep Phenotyping
11%
Developmental Epilepsy
16%
Developmental Outcomes
20%
DIS3L2
11%
Encephalopathy
16%
ETHE1 Gene
20%
Ethylmalonic Acid
20%
Ethylmalonic Encephalopathy
100%
Extrapyramidal Signs
20%
Fanconi Anemia
16%
Foot Joints
11%
GnomAD
20%
Hearing Tests
16%
KIAA1217
100%
Learning Difficulties
16%
Left Ventricular Noncompaction
11%
Leigh Syndrome
100%
Microarray Gene
16%
Mitochondrial mutations
16%
MKI67
22%
Neurodevelopmental Regression
20%
Neurogenetics
100%
Novel Phenotypes
100%
Palate
11%
Pathogenic Genetic Variants
22%
Perlman Syndrome
11%
Petechiae
20%
Poor Weight Gain
16%
Psychological Evaluation
16%
Psychometric Evaluation
16%
Pyramidal Signs
20%
Somitogenesis
20%
Sulfur Dioxygenase
40%
TCOF1
11%
Treacher Collins Syndrome
11%
Neuroscience
Attention Deficit Hyperactivity Disorder
66%
Autosomal Dominant Disorder
100%
Autosomal Recessive Disorder
100%
Gene Sequence
33%
Karyotype
33%
Learning Disabilities
33%
Magnetic Resonance Imaging
33%
Metabolic Pathway
66%
Microarrays
100%
Physical Examination
33%
Psychometrics
33%
Sensation of Hearing
33%
Medicine and Dentistry
Acrocyanosis
20%
Acylcarnitine
20%
Chronic Diarrhea
20%
Developmental Regression
100%
Dioxygenase
40%
Extrapyramidal Symptoms
20%
Fanconi Anemia
33%
Hearing Test
16%
Hydrogen Sulfide
40%
Leigh's Disease
100%
Psychological Evaluation
16%
Punctate Hemorrhage
20%
Pyramidal Sign
20%
