Blepharophimosis, Ptosis, And Epicanthus Inversus; Bpes

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.

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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.


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Blepharophimosis, Ptosis, And Epicanthus Inversus; Bpes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

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 %
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
FOXL2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FOXL2
Specificity
100 %
Genes
100 %
FOXL2. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FOXL2
Specificity
100 %
Genes
100 %
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Sequence and Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

FOXL2
Specificity
100 %
Genes
100 %
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

FOXL2
Specificity
100 %
Genes
100 %
Blephrophemosis-Ptosis-Epicanthosis syndrome - FOXL2 Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

FOXL2
Specificity
100 %
Genes
100 %

We have 42 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VERHEIJ SYNDROME; VRJS THYROID DYSHORMONOGENESIS 4; TDH4 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY DEAFNESS, X-LINKED 2; DFNX2 FARBER LIPOGRANULOMATOSIS; FRBRL SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19

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