Conotruncal Heart Malformations; Cthm

Clinical Features

Top most frequent phenotypes and symptoms related to Conotruncal Heart Malformations; Cthm

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Ventricular septal defect
  • Intellectual disability, mild
  • Abnormality of cardiovascular system morphology
  • Abnormality of metabolism/homeostasis
  • Abnormal heart morphology

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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Conotruncal Heart Malformations; Cthm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-Onset Diabetes of the Young.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLK, SLC2A2, HNF1A, HNF1B, KLF11, WFS1, NEUROG3, IER3IP1, RFX6, CP, PTF1A, CISD2, GLIS3, EIF2AK3, AKT2, GATA6, GCK, HNF4A, ABCC8, INS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
25 %
Heterotaxy V2 Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ZIC3, CRELD1, ACVR2B, CFC1, BCL9L, NKX2-5, CFAP53, DNAH11, DNAH5, NAT10, SHROOM3, LEFTY2, FOXH1, GATA6, GDF1, GJA1, NODAL
Specificity
12 %
Genes
50 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
25 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLK, SLC2A2, STAT3, KLF11, WFS1, ZBTB20, NEUROG3, LRBA, CDKN1C, CEL, IER3IP1, ZFP57, RFX6, CP, PTF1A, APPL1, CISD2, TRMT10A, GLIS3, DUT , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
25 %
Comprehensive Neonatal Diabetes Mutation Analysis.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, HYMAI, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2, PLAGL1
Specificity
8 %
Genes
25 %
GATA6 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

GATA6
Specificity
100 %
Genes
25 %
GATA6 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

GATA6
Specificity
100 %
Genes
25 %
Neonatal Diabetes Mellitus Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZFP57, EIF2AK3, GATA4, GATA6, GCK, MNX1, ABCC8, INS, FOXP3, PDX1, KCNJ11, NKX2-2
Specificity
9 %
Genes
25 %

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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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