MBIP gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to MBIP gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Cognitive impairment Very Common - Between 80% and 100% cases
Motor delay Very Common - Between 80% and 100% cases
Dysarthria Very Common - Between 80% and 100% cases
Gait disturbance Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Behavioral abnormality
  • Dystonia
  • Myoclonus
  • Anxiety
  • Mental deterioration
  • Chorea
  • Asthma
  • Neuronal loss in central nervous system

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MBIP gene

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


CHOREA, BENIGN HEREDITARY; BHC


Alternate names

CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia, bch

Most common symptoms of CHOREA, BENIGN HEREDITARY; BHC

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


More info about CHOREA, BENIGN HEREDITARY; BHC

SOURCES: OMIM


Potential gene panels for MBIP gene

MBIP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MBIP gene.

More info about this panel


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