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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, arthritis, and other debilitating issues.  

There is currently no cure or treatment.

The Mission of the FAM177A1 Research Fund is to improve the lives of everyone affected by FAM177A1 Disorder by accelerating the development of treatments and fostering support systems.

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

  • Arthritis

  • Upslanted palpebral fissures

  • Learn more



Does your child have FAM177A1 Associated Disease?

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