Keyphrases
Affected children
12%
Amino Acids
25%
Associated Diseases
12%
Attention Deficit Hyperactivity Disorder
12%
Autism Spectrum Disorder
12%
C-terminal Region
12%
CDK8
25%
Congenital Heart Abnormalities
12%
Data Sharing
12%
De-novo mutations
100%
Developmental Delay
37%
Disease Genes
12%
DNA Data
12%
DNA Sequencing
12%
Dysmorphism
12%
GeneMatcher
12%
Genetic Causes
12%
Hypotonia
12%
In-frame Deletion
12%
Inherited Variants
12%
Intellectual Disability
37%
Kinase Module
25%
Language Delay
12%
MED13
100%
MED13L
12%
Mediator Complex
100%
Missense mutation
12%
Neurodevelopmental Disorders
100%
Optic Nerve Disorders
12%
Polymerase II
12%
Protein Complex
12%
Speech Disorders
12%
Transcription Initiation
12%
Truncating mutation
12%
Ubiquitination
12%
Biochemistry, Genetics and Molecular Biology
Amino Acids
66%
C-Terminus
33%
DNA Sequence
33%
Genetics
33%
Intellectual Disability
100%
Kinase
66%
Mediator
66%
Mediator Complex
100%
Missense Mutation
33%
Multiprotein Complex
33%
N-Terminus
66%
Paralogy
33%
Phosphotransferase
66%
Polymerase
33%
Transcription Initiation
33%
Ubiquitination
33%