Retinitis Pigmentosa 59; Rp59

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 59; Rp59

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cryptorchidism
  • Spasticity
  • Feeding difficulties
  • Hepatomegaly

And another 15 symptoms. If you need more information about this disease we can help you.

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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.

Retinitis Pigmentosa 59; Rp59 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 %
DHDDS Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DHDDS
Specificity
100 %
Genes
100 %
DHDDS Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DHDDS
Specificity
100 %
Genes
100 %
DHDDS Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

DHDDS
Specificity
100 %
Genes
100 %
DHDDS Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

DHDDS
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %

You can get up to 50 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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