Periventricular Nodular Heterotopia 6; Pvnh6
Clinical Features
Phenotypes and symptoms related to Periventricular Nodular Heterotopia 6; Pvnh6
- Seizures
- Global developmental delay
- Strabismus
- Delayed speech and language development
- Hypsarrhythmia
- Heterotopia
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Periventricular Nodular Heterotopia 6; Pvnh6 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Genetic Services Laboratory University of Chicago (United States).
SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 % |
![]() By Amplexa Genetics Amplexa Genetics A/S (Denmark).
ERMARD
Specificity
100 %
Genes
100 % |
![]() By Asper Biogene Asper Biogene LLC (Estonia).
STIL, SLC12A6, SNAP29, TCF4, CEP41, TUBB2A, TUBG1, VLDLR, VRK1, ACTB, RXYLT1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, B4GAT1, CCND2 , (...)
View the complete list with 125 more genes
Specificity
1 %
Genes
100 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
ERMARD
Specificity
100 %
Genes
100 % |
You can get up to -1 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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