Polymicrogyria
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in RTTN gene have been described in bilateral diffuse isolated polymicrogyria and, more recently, in microcephalic primordial dwarfism (PD).
|
26940245 |
2016 |
Polymicrogyria
|
0.140 |
Biomarker
|
disease |
BEFREE |
Our results expand the phenotype of RTTN-related disorders, hitherto limited to polymicrogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simplified gyration.
|
26608784 |
2015 |
Polymicrogyria
|
0.140 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
|
29883675 |
2018 |
Microcephaly
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
|
30121372 |
2018 |
Microcephaly
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
|
29967526 |
2018 |
Microcephaly
|
0.130 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
|
29967526 |
2018 |
Seizures
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism.
|
29356416 |
2018 |
Seizures
|
0.120 |
Biomarker
|
phenotype |
HPO |
|
|
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Platelet mean volume determination (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Platelet Component Distribution Width Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Craniosynostosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cryptorchidism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Eczema
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Exophthalmos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microstomia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Moderate intellectual disability
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Spasticity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Severe intellectual disability
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Sleep disturbances
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Stereotyped Behavior
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|