Growth Hormone Insensitivity With Immunodeficiency

Clinical Features

Top most frequent phenotypes and symptoms related to Growth Hormone Insensitivity With Immunodeficiency

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Cognitive impairment

And another 47 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.

Alternative names

Growth Hormone Insensitivity With Immunodeficiency Is also known as growth hormone insensitivity due to postreceptor defect, laron syndrome due to postreceptor defect.

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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Growth Hormone Insensitivity With Immunodeficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GHR (SS) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GHR
Specificity
100 %
Genes
50 %
Laron Syndrome (GHR mutations).

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

GHR
Specificity
100 %
Genes
50 %
GHR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

GHR
Specificity
100 %
Genes
50 %
Laron syndrome (sequence analysis of GHR gene).

By CGC Genetics (Portugal).

GHR
Specificity
100 %
Genes
50 %
Hypercholesterolemia, familial (NGS panel for 15 genes).

By CGC Genetics (Portugal).

ABCG5, ABCG8, APTX, PPP1R17, LDLRAP1, PCSK9, EPHX2, GHR, ITIH4, LDLR, LIPA, LRP6
Specificity
9 %
Genes
50 %
Familial Hypercholesterolemia, Autosomal Dominant, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

GHR, LDLR
Specificity
50 %
Genes
50 %
Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GHR
Specificity
100 %
Genes
50 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests (United States).

SOX3, BTK, LHX4, GH1, GHR, GHRHR, GHSR, HESX1, IGF1, IGF1R, LHX3, OTX2, POU1F1, PROP1
Specificity
8 %
Genes
50 %

We have 47 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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