UBA5 gene related symptoms and diseases

All the information presented here about the UBA5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to UBA5 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Hypertonia	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases
Cerebellar atrophy	Common - Between 50% and 80% cases
Muscular hypotonia of the trunk	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with UBA5 gene alterations may also develop some of the following symptoms and phenotypes:

• Commonly - More than 50% cases

• Encephalopathy
• Dystonia
• Absent speech
• Spasticity
• Ataxia
• Microcephaly
• Generalized hypotonia
• Global developmental delay

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to UBA5 gene

Here you will find a list of rare diseases related to the UBA5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in UBA5

Potential gene panels for UBA5 gene

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