MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
|
29560374 |
2018 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
|
0.800 |
GeneticVariation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
|
0.800 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Delayed speech and language development
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Sleep disturbances
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Microcephaly (physical finding)
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Constipation
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Poor school performance
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Pediatric failure to thrive
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Growth abnormality
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Gross motor development delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Abnormal emotion/affect behavior
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Profound global developmental delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Neonatal respiratory distress
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
|
29100083 |
2017 |
Abnormality of the eye
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Dyskinetic syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Short stature
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Hyperkinesia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Reduced visual acuity
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Abnormality of the face
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
Global developmental delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |