Ullrich Congenital Muscular Dystrophy 2; Ucmd2

Clinical Features

Top most frequent phenotypes and symptoms related to Ullrich Congenital Muscular Dystrophy 2; Ucmd2

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency
  • Areflexia
  • Kyphoscoliosis
  • Facial palsy
  • Muscular dystrophy
  • Joint hypermobility

And another 2 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.

Ullrich Congenital Muscular Dystrophy 2; Ucmd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

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

RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Congenital Myopathy Deletion/Duplication Panel.

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

RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Bethlem Myopathy and Ullrich Muscular Dystrophy Sequencing Panel.

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

COL12A1, COL6A1, COL6A2, COL6A3
Specificity
25 %
Genes
100 %
Type VI-Related Collagenopathy via COL12A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

COL12A1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, MICU1, SELENON, KLHL41, BICD2, MYO18B, KLHL9, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %

You can get up to 42 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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