Trichothiodystrophy 6, Nonphotosensitive; Ttd6

Clinical Features

Top most frequent phenotypes and symptoms related to Trichothiodystrophy 6, Nonphotosensitive; Ttd6

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay
  • Delayed skeletal maturation
  • Pes cavus
  • Intellectual disability, moderate
  • Small for gestational age
  • Dry skin

And another 12 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.

Trichothiodystrophy 6, Nonphotosensitive; Ttd6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Trichothiodystrophy NGS panel.

By Connective Tissue Gene Tests (United States).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3, GTF2E2
Specificity
17 %
Genes
100 %
Trichothiodystrophy Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3, GTF2E2
Specificity
17 %
Genes
100 %
Trichothiodystrophy Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3, GTF2E2
Specificity
17 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
GTF2E2.

By Fulgent Genetics Fulgent Genetics (United States).

GTF2E2
Specificity
100 %
Genes
100 %

You can get up to -3 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 Search Engine

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