Trichothiodystrophy 5, Nonphotosensitive; Ttd5

Clinical Features

Top most frequent phenotypes and symptoms related to Trichothiodystrophy 5, Nonphotosensitive; Ttd5

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation
  • Recurrent infections
  • Cerebellar hypoplasia
  • Micropenis
  • Mandibular prognathia
  • High forehead

And another 21 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.


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Trichothiodystrophy 5, Nonphotosensitive; Ttd5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Trichothiodystrophy (NGS panel of 5 genes).

By CGC Genetics (Portugal).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3
Specificity
20 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RPL10, RPS6KA3, SLC16A2, SLC35A2, SLC6A8, SLC7A3, SLC9A6, SMC1A, KDM5C, SMS, SOX3, SSR4, CDKL5, SYN1, SYP, TAF1, TSPAN7, MED12, UBE2A, USP9X , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
100 %
Nonphotosensitive Trichothiodystrophy 5 (X-linked Intellectual Disability) via RNF113A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RNF113A
Specificity
100 %
Genes
100 %
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 %
Trichothiodystrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RNF113A, MPLKIP, GTF2H5, NUPR1, ERCC2, ERCC3
Specificity
17 %
Genes
100 %

We have 2 more panels available in our App

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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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