DDX52 gene related symptoms and diseases
All the information presented here about the DDX52 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 DDX52 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Upper limb undergrowth | Very Common - Between 80% and 100% cases |
| Small nail | Very Common - Between 80% and 100% cases |
| Hypertrichosis | Very Common - Between 80% and 100% cases |
| Recurrent urinary tract infections | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DDX52 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Large fontanelles
- Sparse and thin eyebrow
- Horizontal nystagmus
- Multicystic kidney dysplasia
- Renal hypoplasia/aplasia
- Schizophrenia
- Focal impaired awareness seizure
- Language impairment
And 55 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DDX52 gene
Here you will find a list of rare diseases related to the DDX52. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
17Q12 MICRODELETION SYNDROME
Alternate names
17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12), monosomy 17q12
Description
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
Most common symptoms of 17Q12 MICRODELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about 17Q12 MICRODELETION SYNDROME
Search interest in DDX52
Potential gene panels for DDX52 gene
DDX52 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DDX52 gene.
More info about this panel United States.
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