BIVM-ERCC5 gene related symptoms and diseases

All the information presented here about the BIVM-ERCC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BIVM-ERCC5 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Erythema	Very Common - Between 80% and 100% cases
Bilateral microphthalmos	Very Common - Between 80% and 100% cases
Infantile spasms	Very Common - Between 80% and 100% cases
Neoplasm of the skin	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BIVM-ERCC5 gene alterations may also develop some of the following symptoms and phenotypes:

• Commonly - More than 50% cases

• Broad-based gait
• Cutaneous photosensitivity
• Intention tremor
• Congenital cataract
• Small for gestational age
• Mental deterioration
• Hearing impairment
• Pes cavus

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BIVM-ERCC5 gene

Here you will find a list of rare diseases related to the BIVM-ERCC5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in BIVM-ERCC5

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