MBOAT7

Below is a summary for the MBOAT7 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full MBOAT7 Gene Guide

The online Gene Guide includes more information about MBOAT7 such as the chance of having another child with this condition, behavior and development concerns linked to MBOAT7-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

MBOAT7-related syndrome is also called intellectual developmental disorder, autosomal recessive 57. For this webpage, we will be using the name MBOAT7-related syndrome to encompass the wide range of variants observed in the people identified.

What is MBOAT7-related syndrome?

MBOAT7-related syndrome happens when there are changes in both copies of the MBOAT7 gene. These changes can keep the gene from working as it should.

Key Role

The MBOAT7 gene is important for mitochondria, which produce the energy that cells need to do work.

Symptoms

Because the MBOAT7 gene is important for the brain, some people may have:

  • Developmental delay
  • Intellectual disability
  • Autism
  • Low muscle tone, also called hypotonia
  • Walking issues
  • Inability to move the lower parts of the body, also called paraplegia
  • Speech difficulties
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)

Do people who have MBOAT7-related syndrome look different?

Most people who have MBOAT7-related syndrome do not look different. Some people have a smaller than average head size.

How many people have MBOAT7-related syndrome?

As of 2025, about 63 people with MBOAT7-related syndrome have been identified in medical research.

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for MBOAT7.

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Research Article Summaries

We currently do not have any article summaries for MBOAT7, but we add resources to our website as they become available.

The information available about MBOAT7 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for MBOAT7 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight  team learn more about MBOAT7 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from MBOAT7 families.

Click here to share your family’s story!