ZFHX4 gene related symptoms and diseases

All the information presented here about the ZFHX4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZFHX4 gene

Symptoms // Phenotype % Cases
Ptosis Very Common - Between 80% and 100% cases
Blepharophimosis Very Common - Between 80% and 100% cases
Ophthalmoplegia Very Common - Between 80% and 100% cases
External ophthalmoplegia Very Common - Between 80% and 100% cases
Congenital ptosis Very Common - Between 80% and 100% cases

Rare diseases associated to ZFHX4 gene

Here you will find a list of rare diseases related to the ZFHX4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL PTOSIS

Description

Congenital ptosis is characterized by superior eyelid drop present at birth.

Most common symptoms of CONGENITAL PTOSIS

  • Ptosis
  • Blepharophimosis
  • Ophthalmoplegia
  • External ophthalmoplegia
  • Congenital ptosis


More info about CONGENITAL PTOSIS

SOURCES: ORPHANET OMIM


Potential gene panels for ZFHX4 gene

Ptosis, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZFHX4 gene.

More info about this panel
Germany.

ZFHX4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZFHX4 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HADH PXDN PFN1 AP3B2 AXL TBX4 SMPD1