MSTO1 gene related symptoms and diseases
All the information presented here about the MSTO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MSTO1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Limb ataxia | Very Common - Between 80% and 100% cases |
Long face | Very Common - Between 80% and 100% cases |
Falls | Very Common - Between 80% and 100% cases |
Distal amyotrophy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MSTO1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Distal sensory impairment
- Inability to walk
- Small hand
- Sensory impairment
- Amenorrhea
- Pigmentary retinopathy
- Intention tremor
- Primary amenorrhea
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MSTO1 gene
Here you will find a list of rare diseases related to the MSTO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME
Alternate names
MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
Most common symptoms of MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME
Search interest in MSTO1
Potential gene panels for MSTO1 gene
MSTO1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MSTO1 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 ENPEP TBL1XR1 SYNE2 SLC6A20 NPHS1 RLIM DDHD2