Congenital Heart Defects And Ectodermal Dysplasia; Chded

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Heart Defects And Ectodermal Dysplasia; Chded

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus
  • Feeding difficulties
  • Delayed speech and language development
  • Depressed nasal bridge
  • Motor delay
  • Syndactyly

And another 14 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.

Congenital Heart Defects And Ectodermal Dysplasia; Chded Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRKD1 seqeuncing, somatic.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

PRKD1
Specificity
100 %
Genes
100 %
Ectodermal Dysplasia Panel.

By Blueprint Genetics (Finland).

RMRP, BCS1L, IFT122, WNT10A, EDARADD, TP63, MPLKIP, CDH3, PORCN, EVC2, EDAR, WDR35, DSP, EDA, ERCC2, EVC, GJB2, GJB6, HOXC13, HR , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics (Finland).

BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -4 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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