Glycogen Storage Disease Ixb; Gsd9b

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Ixb; Gsd9b

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Fatigue

And another 24 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.

Alternative names

Glycogen Storage Disease Ixb; Gsd9b Is also known as gsd ixb, glycogenosis of liver and muscle, autosomal recessive, phosphorylase kinase deficiency of liver and muscle, autosomal recessive.

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.

Glycogen Storage Disease Ixb; Gsd9b 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 %
PHKB Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

PHKB
Specificity
100 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

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

RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SLC2A2, AGL, ENO3, FBP1, G6PC, SLC37A4, GAA, ALDOA, ALDOB, GBE1, GYG1, GYS1, GYS2, KHK, PC, PFKL, PFKM, PGAM2, PGM1, PHKA1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Glycogen Storage Disease- Liver.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC2A2, AGL, FBP1, G6PC, SLC37A4, GBE1, GYG2, GYS2, PFKL, PHKA2, PHKB, PHKG2, PYGL
Specificity
8 %
Genes
100 %

You can get up to 41 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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