DNASE1L1 gene related symptoms and diseases

All the information presented here about the DNASE1L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNASE1L1 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Hyperammonemia Very Common - Between 80% and 100% cases
Organic aciduria Very Common - Between 80% and 100% cases
Mitochondrial myopathy Very Common - Between 80% and 100% cases
Poor appetite Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNASE1L1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Myopathic facies
  • Abnormality of mitochondrial metabolism
  • Easy fatigability
  • Ventricular arrhythmia
  • Recurrent bacterial infections
  • Decreased plasma carnitine
  • Exercise intolerance
  • Spontaneous abortion

And 70 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to DNASE1L1 gene

Here you will find a list of rare diseases related to the DNASE1L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

BARTH SYNDROME Is also known as bths, 3-methylglutaconic aciduria type 2, mgca2, x-linked cardioskeletal myopathy and neutropenia, cardioskeletal myopathy with neutropenia and abnormal mitochondria, mga2, mga, type ii, cardioskeletal myopathy-neutropenia syndrome, 3-methylglutaconic aciduria, t


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

Most common symptoms of BARTH SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive

More info about BARTH SYNDROME


Potential gene panels for DNASE1L1 gene

DNASE1L1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNASE1L1 gene.

More info about this panel

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