Immunodeficiency, Developmental Delay, And Hypohomocysteinemia; Imddhh

Description

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency, Developmental Delay, And Hypohomocysteinemia; Imddhh

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Tremor
  • Cardiomyopathy
  • Atrial septal defect

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.


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Immunodeficiency, Developmental Delay, And Hypohomocysteinemia; Imddhh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company (Germany).

BCL6, ROS1, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SRC, STK11, HNF1A, TP53, TSC1, TSC2, VHL, EML4, BRD4, CCND1, CCNE1, FBXW7, CD74 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
NFE2L2.

By Fulgent Genetics Fulgent Genetics (United States).

NFE2L2
Specificity
100 %
Genes
100 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

RIT1, ROS1, RXRA, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, KDM5C, SOS1, STK11, TEK, TERT, TGFBR2, MED12, TP53, TSC1, TSC2, VHL , (...)

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Specificity
1 %
Genes
100 %
Head & Neck Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

BRCA1, BRCA2, TGFBR2, TP53, KDM6A, KMT2C, NSD1, CCND1, FBXW7, CDKN2A, ASXL1, EGFR, EP300, ERBB2, FAT1, AKT1, AKT2, AKT3, MTOR, GATA4 , (...)

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Specificity
3 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
100 %
Guardant360.

By Guardant Health (United States).

RHEB, RIT1, ROS1, BRAF, BRCA1, BRCA2, ARID1A, SMO, STK11, HNF1A, TERT, TP53, TSC1, VHL, CCND1, CCND2, CCNE1, FBXW7, CDH1, CDK4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. (United States).

BCL6, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA4, SMARCB1, ARID1A, KDM5C, SMO, SNCAIP , (...)

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Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

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Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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