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.

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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

SOURCES: ORPHANET OMIM


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


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