TRAPPC12 gene related symptoms and diseases

All the information presented here about the TRAPPC12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TRAPPC12 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Dystonia	Very Common - Between 80% and 100% cases
Progressive encephalopathy	Very Common - Between 80% and 100% cases
Partial agenesis of the corpus callosum	Very Common - Between 80% and 100% cases
Cerebral visual impairment	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TRAPPC12 gene alterations may also develop some of the following symptoms and phenotypes:

• Commonly - More than 50% cases

• Hypsarrhythmia
• Developmental regression
• Muscular hypotonia of the trunk
• Cerebral cortical atrophy
• Myoclonus
• Agenesis of corpus callosum
• Encephalopathy
• Respiratory insufficiency

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TRAPPC12 gene

Here you will find a list of rare diseases related to the TRAPPC12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in TRAPPC12

Potential gene panels for TRAPPC12 gene

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