PSMD12 gene related symptoms and diseases
All the information presented here about the PSMD12 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 PSMD12 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Patent ductus arteriosus | Very Common - Between 80% and 100% cases |
| Truncus arteriosus | Very Common - Between 80% and 100% cases |
| Shawl scrotum | Very Common - Between 80% and 100% cases |
| Absent thumb | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PSMD12 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Horizontal nystagmus
- Cerebral visual impairment
- Short thumb
- Prominent nose
- Facial asymmetry
- Abnormal cardiac septum morphology
- Abnormality of the kidney
- Retrognathia
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PSMD12 gene
Here you will find a list of rare diseases related to the PSMD12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STANKIEWICZ-ISIDOR SYNDROME; STISS
Description
Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).
Most common symptoms of STANKIEWICZ-ISIDOR SYNDROME; STISS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about STANKIEWICZ-ISIDOR SYNDROME; STISS
SOURCES: OMIM
Search interest in PSMD12
Potential gene panels for PSMD12 gene
PSMD12 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PSMD12 gene.
More info about this panel United States.
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