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What is USP7?

For those diagnosed with a mutation or deletion of the USP7 gene located on chromosome 16.


For those diagnosed with a mutation or deletion of the USP7 gene located on chromosome 16.

Acknowledgement of USP7 has not been added yet.

Currently there are 25 known cases in the world.

Synonyms for USP7 has not been added yet.

The cause of USP7 is a mutation of the gene or a deletion of the gene.

  • Developmental Delay/Intellectual Disability
  • Speech Impairment
  • Autism spectrum disorder
  • Neonatal hypotonia
  • Significant feeding problems
  • Hypogonadism
  • Eye abnormalities (strabismus, myopia, nystagmus, or other)
  • Reflux/Gerd
  • Abnormal brain MRI
  • Hypotonia
  • Contractures
  • Short stature
  • Difficulty gaining weight
  • Chronic constipation
  • Chronic diarrhea
  • Seizures
  • Abnormal gait 
  • Aggressive behavior
Name Description
Difficulty Walking Difficulty Walking
Visual Defects Visual Defects
Difficulty in Articulating Words Difficulty in Articulating Words
Behavioral Changes Behavioral Changes
Seizures Seizures
Mental retardation Mental retardation
Constipation Constipation
Muscular weakness Muscular weakness
Sleep disturbances Sleep disturbances
Abnormal Brain MRI Scans Abnormal Brain MRI Scans

Diagnosed through chromosome microarray or whole exome sequencing

Once diagnosed, there are certain tests that are recommended for each patient. These tests include:

  1. Measurement of IGF-1 and IGF-BP3 to screen for growth hormone deficiency
  2. A brain MRI after 40 months of age to assess for abnormalities of white matter
  3. Full assessment by a speech pathologist
  4. Full assessment for physical and occupational therapy
  5. Formal cognitive and behavioral testing by a licensed pediatric psychiatrist 
  6. A sleep apnea test/sleep study
  7. An EEG test to test for abnormal electric activity that could cause/predispose seizures
  8. A consultation with a gastroenterologist for any reflux, vomiting, or chronic constipation/diarrhea issues
  9.  An assessment by a pediatric ophthalmologist
Treatments of USP7 has not been added yet.
Prognosis of USP7 has not been added yet.
Tips or Suggestions of USP7 has not been added yet.

Visit or Facebook for more information.

Tess Is Not Alone - A USP7 Story Created by RareshareTeam
Last updated 18 Jul 2018, 01:06 AM

Posted by RareshareTeam
18 Jul 2018, 01:06 AM

Hi everyone!  Check out this wonderful short film about one family's USP7 journey: 

Welcome! Created by Becky Raatz
Last updated 8 Nov 2017, 07:56 PM

Posted by Becky Raatz
8 Nov 2017, 07:56 PM

Welcome to the USP7 community. Please let us know a little about yourself. Visit our website at and our Facebook page.

Community External News Link
Title Date Link
When a Rare Mutation Causes a Rare Disease: Jacob’s Story 06/22/2019
Why We Decided to Start the First Rare Disease Film Festival 10/28/2019
Community Resources
Title Description Date Link
Physician Resources

A link for physician resources.

Family Resources

A link to the family resources for USP7-related diseases.


Clinical Trials

Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

Community Leaders

Becky Raatz

My daughter is diagnosed with a missense mutation of USP7 on Chromosome 16.


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Tess Is Not Alone - A USP7 Story

Created by RareshareTeam | Last updated 18 Jul 2018, 01:06 AM


Created by Becky Raatz | Last updated 8 Nov 2017, 07:56 PM


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