Chromosome Xp11.3 Deletion Syndrome

Clinical Features

Phenotypes and symptoms related to Chromosome Xp11.3 Deletion Syndrome

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Intellectual disability, moderate
  • Nyctalopia
  • Chorioretinal degeneration

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

Chromosome Xp11.3 Deletion Syndrome Is also known as mental retardation, x-linked, with retinitis pigmentosa.

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.

Chromosome Xp11.3 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
RHO Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
RHO Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
RHO Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
RHO Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RHO
Specificity
100 %
Genes
50 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
7 %
Genes
50 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
3 %
Genes
100 %
RHO.

By Institute for Human Genetics University Clinic Freiburg (Germany).

RHO
Specificity
100 %
Genes
50 %

You can get up to 125 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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