Dyggve-melchior-clausen Disease; Dmc

Clinical Features

Top most frequent phenotypes and symptoms related to Dyggve-melchior-clausen Disease; Dmc

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Flexion contracture
  • Feeding difficulties
  • Abnormality of the skeletal system
  • Short neck

And another 47 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Dyggve-melchior-clausen Disease; Dmc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal Storage Disease Panel.

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

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
DYM. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

DYM
Specificity
100 %
Genes
100 %
Smith-McCort dysplasia (deletion/duplication analysis of DYM gene).

By CGC Genetics (Portugal).

DYM
Specificity
100 %
Genes
100 %
Dyggve-Melchior-Clausen disease (deletion/duplication analysis of DYM gene).

By CGC Genetics (Portugal).

DYM
Specificity
100 %
Genes
100 %
Smith-McCort dysplasia (deletion/duplication analysis of DYM gene).

By CGC Genetics (Portugal).

DYM
Specificity
100 %
Genes
100 %
Dyggve-Melchior-Clausen disease (deletion/duplication analysis of DYM gene).

By CGC Genetics (Portugal).

DYM
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %

You can get up to 34 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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