GSEC gene related symptoms and diseases

All the information presented here about the GSEC 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 GSEC gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Thin upper lip vermilion Very Common - Between 80% and 100% cases
Sandal gap Very Common - Between 80% and 100% cases
Hypopigmentation of the skin Very Common - Between 80% and 100% cases
Inability to walk Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GSEC gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Flat face
  • Unsteady gait
  • Abnormal cardiac septum morphology
  • Joint laxity
  • Neonatal hypotonia
  • Deeply set eye
  • Narrow mouth
  • Global developmental delay

And 10 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to GSEC gene

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


Most common symptoms of AL-RAQAD SYNDROME; ARS

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay

More info about AL-RAQAD SYNDROME; ARS


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