Ichthyosis, Hystrix-like, With Deafness

Clinical Features

Top most frequent phenotypes and symptoms related to Ichthyosis, Hystrix-like, With Deafness

  • Hearing impairment
  • Sensorineural hearing impairment
  • Alopecia
  • Pes cavus
  • Hyperkeratosis
  • Scarring
  • Papule
  • Hypotrichosis
  • Ichthyosis
  • Palmoplantar keratoderma

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Ichthyosis, Hystrix-like, With Deafness Is also known as hid syndrome.

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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Ichthyosis, Hystrix-like, With Deafness Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GJB2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
100 %
GJB2 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
100 %
GJB2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Connexin 26 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GJB2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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