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These beautiful children are suffering from a rare disease caused by loss of function of the FAM177A1 gene. Disruptions of the FAM177A1 gene cause intellectual disability, seizures, autism, progressive motor decline, immune, and other debilitating issues. 

There are currently no disease-specific treatments.  

The Mission of the FAM177A1 Research Fund is to improve the lives of everyone impacted by FAM177A1 Disorder. We will do this by uniting the global FAM177A1 Disorder community to accelerate research and develop patient-focused treatments.

We know the gene. We have the team. Let's do this! 

SYMPTOMS/PHENOTYPE of FAM177A1 Associated Disease

  • Intellectual disability/global developmental delay 

  • Autism

  • Macrocephaly/Large head size

  • Seizures

  • Sleep disturbance

  • Unusual gait or walking pattern

  • Congenital cataracts

  • Muscle tone issues

  • Immune issues such as arthritis and frequent infections

  • Upslanted palpebral fissures

  • Learn more


Does your child have FAM177A1 Associated Disease?
You are not alone!

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