Blepharophimosis, Ptosis, And Epicanthus Inversus; Bpes
Genes related to Blepharophimosis, Ptosis, And Epicanthus Inversus; Bpes
- FOXL2
Clinical Features
Top most frequent phenotypes and symptoms related to Blepharophimosis, Ptosis, And Epicanthus Inversus; Bpes
- Intellectual disability
- Global developmental delay
- Microcephaly
- Nystagmus
- Strabismus
- Abnormal facial shape
- Ptosis
- High palate
- Feeding difficulties
- Depressed nasal bridge
And another 31 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES have a estimated prevalence of 2 per 100k in Europe.— 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.Blepharophimosis, Ptosis, And Epicanthus Inversus; Bpes Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
FOXL2
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
FOXL2
Specificity
100 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
FOXL2
Specificity
100 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
FOXL2
Specificity
100 %
Genes
100 % |
![]() By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
FOXL2
Specificity
100 %
Genes
100 % |
You can get up to 42 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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