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.
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
Search interest in MBIP
Potential gene panels for MBIP gene
MBIP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MBIP gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DCN PINK1 SEC63 SLC39A14 LPL SALL1 RREB1