Bainbridge-ropers Syndrome; Brps

Description

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Bainbridge-ropers Syndrome; Brps

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus

And another 34 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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.


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Bainbridge-ropers Syndrome; Brps Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Microcephaly Sequencing Panel.

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

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

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

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Cornelia de Lange Seq Analysis.

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

SMC1A, HDAC8, ASXL1, ANKRD11, SMC3, NIPBL, ASXL3, RAD21
Specificity
13 %
Genes
100 %
Cornelia de Lange Seq + Del/Dup Panel.

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

SMC1A, HDAC8, ASXL1, ANKRD11, SMC3, NIPBL, ASXL3, RAD21
Specificity
13 %
Genes
100 %
Cornelia de Lange Del/Dup Panel.

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

SMC1A, HDAC8, ASXL1, ANKRD11, SMC3, NIPBL, ASXL3, RAD21
Specificity
13 %
Genes
100 %
Bainbridge-Ropers syndrome (sequence analysis of ASXL3 gene).

By CGC Genetics (Portugal).

ASXL3
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %

We have 3 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 SECKEL SYNDROME 1; SCKL1 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17 PSEUDOXANTHOMA ELASTICUM-LIKE SKIN MANIFESTATIONS WITH RETINITIS PIGMENTOSA LEBER CONGENITAL AMAUROSIS 15; LCA15 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 IMINOGLYCINURIA

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