|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
|
29034068 |
2017 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
|
28053047 |
2017 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
|
27241786 |
2016 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
|
26922654 |
2016 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
|
25707398 |
2016 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
|
25920557 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
DYRK1A mutations in two unrelated patients.
|
25641759 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
|
25920557 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
|
23099646 |
2012 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip.
|
31803247 |
2019 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The Down syndrome and microcephaly related gene Mnb/Dyrk1A encodes an evolutionary conserved protein kinase subfamily that plays important roles in neurodevelopment. minibrain (mnb) mutants of Drosophila melanogaster (Dm) exhibit reduced adult brains due to neuronal deficits generated during larval development.
|
29495936 |
2018 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations and copy number variants affecting DYRK1A gene encoding the dual-specificity tyrosine phosphorylation-regulated kinase 1A are among the most frequent genetic causes of neurodevelopmental disorders including autism spectrum disorder (ASD) associated with microcephaly, febrile seizures and severe speech acquisition delay.
|
29223763 |
2018 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
DYRK1A, dual-specificity tyrosine phosphorylation-regulated kinase 1A, which is linked to mental retardation and microcephaly, is a member of the CMGC group of kinases.
|
30137413 |
2018 |
|
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcephaly, developmental delay and intellectual disability (ID) as well as characteristic facial features.
|
26922654 |
2016 |
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
In the present study, we report 10 unrelated individuals with DYRK1A-associated intellectual disability (ID) who display a recurrent pattern of clinical manifestations including primary or acquired microcephaly, ID ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain.
|
25920557 |
2015 |